Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia
Identifieur interne : 006627 ( Ncbi/Curation ); précédent : 006626; suivant : 006628Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia
Auteurs : Tohru Fujiwara [Japon] ; Noriko Fukuhara [Japon] ; Ryo Funayama [Japon] ; Naoki Nariai [Japon] ; Mayumi Kamata [Japon] ; Takeshi Nagashima [Japon] ; Kaname Kojima [Japon] ; Yasushi Onishi [Japon] ; Yoji Sasahara [Japon] ; Kenichi Ishizawa [Japon] ; Masao Nagasaki [Japon] ; Keiko Nakayama [Japon] ; Hideo Harigae [Japon]Source :
- Annals of Hematology [ 0939-5555 ] ; 2014.
Abstract
Heterozygous
The online version of this article (doi:10.1007/s00277-014-2090-4) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1007/s00277-014-2090-4
PubMed: 24782121
PubMed Central: 4119934
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000B92
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000B91
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001B04
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :006627
Links to Exploration step
PMC:4119934Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia</title>
<author><name sortKey="Fujiwara, Tohru" sort="Fujiwara, Tohru" uniqKey="Fujiwara T" first="Tohru" last="Fujiwara">Tohru Fujiwara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fukuhara, Noriko" sort="Fukuhara, Noriko" uniqKey="Fukuhara N" first="Noriko" last="Fukuhara">Noriko Fukuhara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Funayama, Ryo" sort="Funayama, Ryo" uniqKey="Funayama R" first="Ryo" last="Funayama">Ryo Funayama</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nariai, Naoki" sort="Nariai, Naoki" uniqKey="Nariai N" first="Naoki" last="Nariai">Naoki Nariai</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kamata, Mayumi" sort="Kamata, Mayumi" uniqKey="Kamata M" first="Mayumi" last="Kamata">Mayumi Kamata</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nagashima, Takeshi" sort="Nagashima, Takeshi" uniqKey="Nagashima T" first="Takeshi" last="Nagashima">Takeshi Nagashima</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kojima, Kaname" sort="Kojima, Kaname" uniqKey="Kojima K" first="Kaname" last="Kojima">Kaname Kojima</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Onishi, Yasushi" sort="Onishi, Yasushi" uniqKey="Onishi Y" first="Yasushi" last="Onishi">Yasushi Onishi</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5">Department of Pediatrics, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ishizawa, Kenichi" sort="Ishizawa, Kenichi" uniqKey="Ishizawa K" first="Kenichi" last="Ishizawa">Kenichi Ishizawa</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff6">Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nagasaki, Masao" sort="Nagasaki, Masao" uniqKey="Nagasaki M" first="Masao" last="Nagasaki">Masao Nagasaki</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakayama, Keiko" sort="Nakayama, Keiko" uniqKey="Nakayama K" first="Keiko" last="Nakayama">Keiko Nakayama</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Harigae, Hideo" sort="Harigae, Hideo" uniqKey="Harigae H" first="Hideo" last="Harigae">Hideo Harigae</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24782121</idno>
<idno type="pmc">4119934</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119934</idno>
<idno type="RBID">PMC:4119934</idno>
<idno type="doi">10.1007/s00277-014-2090-4</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">000B92</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000B92</idno>
<idno type="wicri:Area/Pmc/Curation">000B91</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000B91</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001B04</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001B04</idno>
<idno type="wicri:Area/Ncbi/Merge">006627</idno>
<idno type="wicri:Area/Ncbi/Curation">006627</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia</title>
<author><name sortKey="Fujiwara, Tohru" sort="Fujiwara, Tohru" uniqKey="Fujiwara T" first="Tohru" last="Fujiwara">Tohru Fujiwara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Fukuhara, Noriko" sort="Fukuhara, Noriko" uniqKey="Fukuhara N" first="Noriko" last="Fukuhara">Noriko Fukuhara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Funayama, Ryo" sort="Funayama, Ryo" uniqKey="Funayama R" first="Ryo" last="Funayama">Ryo Funayama</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nariai, Naoki" sort="Nariai, Naoki" uniqKey="Nariai N" first="Naoki" last="Nariai">Naoki Nariai</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kamata, Mayumi" sort="Kamata, Mayumi" uniqKey="Kamata M" first="Mayumi" last="Kamata">Mayumi Kamata</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nagashima, Takeshi" sort="Nagashima, Takeshi" uniqKey="Nagashima T" first="Takeshi" last="Nagashima">Takeshi Nagashima</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kojima, Kaname" sort="Kojima, Kaname" uniqKey="Kojima K" first="Kaname" last="Kojima">Kaname Kojima</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Onishi, Yasushi" sort="Onishi, Yasushi" uniqKey="Onishi Y" first="Yasushi" last="Onishi">Yasushi Onishi</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sasahara, Yoji" sort="Sasahara, Yoji" uniqKey="Sasahara Y" first="Yoji" last="Sasahara">Yoji Sasahara</name>
<affiliation wicri:level="1"><nlm:aff id="Aff5">Department of Pediatrics, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ishizawa, Kenichi" sort="Ishizawa, Kenichi" uniqKey="Ishizawa K" first="Kenichi" last="Ishizawa">Kenichi Ishizawa</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff6">Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Clinical Research, Innovation and Education Center, Tohoku University Hospital, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nagasaki, Masao" sort="Nagasaki, Masao" uniqKey="Nagasaki M" first="Masao" last="Nagasaki">Masao Nagasaki</name>
<affiliation wicri:level="4"><nlm:aff id="Aff4">Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai</wicri:regionArea>
<orgName type="university">Université du Tōhoku</orgName>
<placeName><settlement type="city">Sendai</settlement>
<region type="province">Région de Tōhoku</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakayama, Keiko" sort="Nakayama, Keiko" uniqKey="Nakayama K" first="Keiko" last="Nakayama">Keiko Nakayama</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3">Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Harigae, Hideo" sort="Harigae, Hideo" uniqKey="Harigae H" first="Hideo" last="Harigae">Hideo Harigae</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1">Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai, 980-8575 Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Hematology and Rheumatology, Tohoku University Graduate School, 2-1 Seiryo-cho, Aoba-ku, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff2">Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Molecular Hematology/Oncology, Tohoku University Graduate School, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of Hematology</title>
<idno type="ISSN">0939-5555</idno>
<idno type="eISSN">1432-0584</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Heterozygous <italic>GATA</italic>
-<italic>2</italic>
germline mutations are associated with overlapping clinical manifestations termed GATA-2 deficiency, characterized by immunodeficiency and predisposition to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). However, there is considerable clinical heterogeneity among patients, and the molecular basis for the evolution of immunodeficiency into MDS/AML remains unknown. Thus, we conducted whole-genome sequencing on a patient with a germline GATA-2 heterozygous mutation (c. 988 C > T; p. R330X), who had a history suggestive of immunodeficiency and evolved into MDS/AML. Analysis was conducted with DNA samples from leukocytes for immunodeficiency, bone marrow mononuclear cells for MDS and bone marrow-derived mesenchymal stem cells. Whereas we did not identify a candidate genomic deletion that may contribute to the evolution into MDS, a total of 280 MDS-specific nonsynonymous single nucleotide variants were identified. By narrowing down with the single nucleotide polymorphism database, the functional missense database, and NCBI information, we finally identified three candidate mutations for <italic>EZH2</italic>
, <italic>HECW2</italic>
and <italic>GATA</italic>
-<italic>1</italic>
, which may contribute to the evolution of the disease.</p>
<sec><title>Electronic supplementary material</title>
<p>The online version of this article (doi:10.1007/s00277-014-2090-4) contains supplementary material, which is available to authorized users.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Bresnick, Eh" uniqKey="Bresnick E">EH Bresnick</name>
</author>
<author><name sortKey="Lee, Hy" uniqKey="Lee H">HY Lee</name>
</author>
<author><name sortKey="Fujiwara, T" uniqKey="Fujiwara T">T Fujiwara</name>
</author>
<author><name sortKey="Johnson, Kd" uniqKey="Johnson K">KD Johnson</name>
</author>
<author><name sortKey="Keles, S" uniqKey="Keles S">S Keles</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Dickinson, Re" uniqKey="Dickinson R">RE Dickinson</name>
</author>
<author><name sortKey="Griffin, H" uniqKey="Griffin H">H Griffin</name>
</author>
<author><name sortKey="Bigley, V" uniqKey="Bigley V">V Bigley</name>
</author>
<author><name sortKey="Reynard, Ln" uniqKey="Reynard L">LN Reynard</name>
</author>
<author><name sortKey="Hussain, R" uniqKey="Hussain R">R Hussain</name>
</author>
<author><name sortKey="Haniffa, M" uniqKey="Haniffa M">M Haniffa</name>
</author>
<author><name sortKey="Lakey, Jh" uniqKey="Lakey J">JH Lakey</name>
</author>
<author><name sortKey="Rahman, T" uniqKey="Rahman T">T Rahman</name>
</author>
<author><name sortKey="Wang, Xn" uniqKey="Wang X">XN Wang</name>
</author>
<author><name sortKey="Mcgovern, N" uniqKey="Mcgovern N">N McGovern</name>
</author>
<author><name sortKey="Pagan, S" uniqKey="Pagan S">S Pagan</name>
</author>
<author><name sortKey="Cookson, S" uniqKey="Cookson S">S Cookson</name>
</author>
<author><name sortKey="Mcdonald, D" uniqKey="Mcdonald D">D McDonald</name>
</author>
<author><name sortKey="Chua, I" uniqKey="Chua I">I Chua</name>
</author>
<author><name sortKey="Wallis, J" uniqKey="Wallis J">J Wallis</name>
</author>
<author><name sortKey="Cant, A" uniqKey="Cant A">A Cant</name>
</author>
<author><name sortKey="Wright, M" uniqKey="Wright M">M Wright</name>
</author>
<author><name sortKey="Keavney, B" uniqKey="Keavney B">B Keavney</name>
</author>
<author><name sortKey="Chinnery, Pf" uniqKey="Chinnery P">PF Chinnery</name>
</author>
<author><name sortKey="Loughlin, J" uniqKey="Loughlin J">J Loughlin</name>
</author>
<author><name sortKey="Hambleton, S" uniqKey="Hambleton S">S Hambleton</name>
</author>
<author><name sortKey="Santibanez Koref, M" uniqKey="Santibanez Koref M">M Santibanez-Koref</name>
</author>
<author><name sortKey="Collin, M" uniqKey="Collin M">M Collin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hsu, Ap" uniqKey="Hsu A">AP Hsu</name>
</author>
<author><name sortKey="Sampaio, Ep" uniqKey="Sampaio E">EP Sampaio</name>
</author>
<author><name sortKey="Khan, J" uniqKey="Khan J">J Khan</name>
</author>
<author><name sortKey="Calvo, Kr" uniqKey="Calvo K">KR Calvo</name>
</author>
<author><name sortKey="Lemieux, Je" uniqKey="Lemieux J">JE Lemieux</name>
</author>
<author><name sortKey="Patel, Sy" uniqKey="Patel S">SY Patel</name>
</author>
<author><name sortKey="Frucht, Dm" uniqKey="Frucht D">DM Frucht</name>
</author>
<author><name sortKey="Vinh, Dc" uniqKey="Vinh D">DC Vinh</name>
</author>
<author><name sortKey="Auth, Rd" uniqKey="Auth R">RD Auth</name>
</author>
<author><name sortKey="Freeman, Af" uniqKey="Freeman A">AF Freeman</name>
</author>
<author><name sortKey="Olivier, Kn" uniqKey="Olivier K">KN Olivier</name>
</author>
<author><name sortKey="Uzel, G" uniqKey="Uzel G">G Uzel</name>
</author>
<author><name sortKey="Zerbe, Cs" uniqKey="Zerbe C">CS Zerbe</name>
</author>
<author><name sortKey="Spalding, C" uniqKey="Spalding C">C Spalding</name>
</author>
<author><name sortKey="Pittaluga, S" uniqKey="Pittaluga S">S Pittaluga</name>
</author>
<author><name sortKey="Raffeld, M" uniqKey="Raffeld M">M Raffeld</name>
</author>
<author><name sortKey="Kuhns, Db" uniqKey="Kuhns D">DB Kuhns</name>
</author>
<author><name sortKey="Ding, L" uniqKey="Ding L">L Ding</name>
</author>
<author><name sortKey="Paulson, Ml" uniqKey="Paulson M">ML Paulson</name>
</author>
<author><name sortKey="Marciano, Be" uniqKey="Marciano B">BE Marciano</name>
</author>
<author><name sortKey="Gea Banacloche, Jc" uniqKey="Gea Banacloche J">JC Gea-Banacloche</name>
</author>
<author><name sortKey="Orange, Js" uniqKey="Orange J">JS Orange</name>
</author>
<author><name sortKey="Cuellar Rodriguez, J" uniqKey="Cuellar Rodriguez J">J Cuellar-Rodriguez</name>
</author>
<author><name sortKey="Hickstein, Dd" uniqKey="Hickstein D">DD Hickstein</name>
</author>
<author><name sortKey="Holland, Sm" uniqKey="Holland S">SM Holland</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ostergaard, P" uniqKey="Ostergaard P">P Ostergaard</name>
</author>
<author><name sortKey="Simpson, Ma" uniqKey="Simpson M">MA Simpson</name>
</author>
<author><name sortKey="Connell, Fc" uniqKey="Connell F">FC Connell</name>
</author>
<author><name sortKey="Steward, Cg" uniqKey="Steward C">CG Steward</name>
</author>
<author><name sortKey="Brice, G" uniqKey="Brice G">G Brice</name>
</author>
<author><name sortKey="Woollard, Wj" uniqKey="Woollard W">WJ Woollard</name>
</author>
<author><name sortKey="Dafou, D" uniqKey="Dafou D">D Dafou</name>
</author>
<author><name sortKey="Kilo, T" uniqKey="Kilo T">T Kilo</name>
</author>
<author><name sortKey="Smithson, S" uniqKey="Smithson S">S Smithson</name>
</author>
<author><name sortKey="Lunt, P" uniqKey="Lunt P">P Lunt</name>
</author>
<author><name sortKey="Murday, Va" uniqKey="Murday V">VA Murday</name>
</author>
<author><name sortKey="Hodgson, S" uniqKey="Hodgson S">S Hodgson</name>
</author>
<author><name sortKey="Keenan, R" uniqKey="Keenan R">R Keenan</name>
</author>
<author><name sortKey="Pilz, Dt" uniqKey="Pilz D">DT Pilz</name>
</author>
<author><name sortKey="Martinez Corral, I" uniqKey="Martinez Corral I">I Martinez-Corral</name>
</author>
<author><name sortKey="Makinen, T" uniqKey="Makinen T">T Makinen</name>
</author>
<author><name sortKey="Mortimer, Ps" uniqKey="Mortimer P">PS Mortimer</name>
</author>
<author><name sortKey="Jeffery, S" uniqKey="Jeffery S">S Jeffery</name>
</author>
<author><name sortKey="Trembath, Rc" uniqKey="Trembath R">RC Trembath</name>
</author>
<author><name sortKey="Mansour, S" uniqKey="Mansour S">S Mansour</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hahn, Cn" uniqKey="Hahn C">CN Hahn</name>
</author>
<author><name sortKey="Chong, Ce" uniqKey="Chong C">CE Chong</name>
</author>
<author><name sortKey="Carmichael, Cl" uniqKey="Carmichael C">CL Carmichael</name>
</author>
<author><name sortKey="Wilkins, Ej" uniqKey="Wilkins E">EJ Wilkins</name>
</author>
<author><name sortKey="Brautigan, Pj" uniqKey="Brautigan P">PJ Brautigan</name>
</author>
<author><name sortKey="Li, Xc" uniqKey="Li X">XC Li</name>
</author>
<author><name sortKey="Babic, M" uniqKey="Babic M">M Babic</name>
</author>
<author><name sortKey="Lin, M" uniqKey="Lin M">M Lin</name>
</author>
<author><name sortKey="Carmagnac, A" uniqKey="Carmagnac A">A Carmagnac</name>
</author>
<author><name sortKey="Lee, Yk" uniqKey="Lee Y">YK Lee</name>
</author>
<author><name sortKey="Kok, Ch" uniqKey="Kok C">CH Kok</name>
</author>
<author><name sortKey="Gagliardi, L" uniqKey="Gagliardi L">L Gagliardi</name>
</author>
<author><name sortKey="Friend, Kl" uniqKey="Friend K">KL Friend</name>
</author>
<author><name sortKey="Ekert, Pg" uniqKey="Ekert P">PG Ekert</name>
</author>
<author><name sortKey="Butcher, Cm" uniqKey="Butcher C">CM Butcher</name>
</author>
<author><name sortKey="Brown, Al" uniqKey="Brown A">AL Brown</name>
</author>
<author><name sortKey="Lewis, Id" uniqKey="Lewis I">ID Lewis</name>
</author>
<author><name sortKey="To, Lb" uniqKey="To L">LB To</name>
</author>
<author><name sortKey="Timms, Ae" uniqKey="Timms A">AE Timms</name>
</author>
<author><name sortKey="Storek, J" uniqKey="Storek J">J Storek</name>
</author>
<author><name sortKey="Moore, S" uniqKey="Moore S">S Moore</name>
</author>
<author><name sortKey="Altree, M" uniqKey="Altree M">M Altree</name>
</author>
<author><name sortKey="Escher, R" uniqKey="Escher R">R Escher</name>
</author>
<author><name sortKey="Bardy, Pg" uniqKey="Bardy P">PG Bardy</name>
</author>
<author><name sortKey="Suthers, Gk" uniqKey="Suthers G">GK Suthers</name>
</author>
<author><name sortKey="D Andrea, Rj" uniqKey="D Andrea R">RJ D'Andrea</name>
</author>
<author><name sortKey="Horwitz, Ms" uniqKey="Horwitz M">MS Horwitz</name>
</author>
<author><name sortKey="Scott, Hs" uniqKey="Scott H">HS Scott</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bodor, C" uniqKey="Bodor C">C Bödör</name>
</author>
<author><name sortKey="Renneville, A" uniqKey="Renneville A">A Renneville</name>
</author>
<author><name sortKey="Smith, M" uniqKey="Smith M">M Smith</name>
</author>
<author><name sortKey="Charazac, A" uniqKey="Charazac A">A Charazac</name>
</author>
<author><name sortKey="Iqbal, S" uniqKey="Iqbal S">S Iqbal</name>
</author>
<author><name sortKey="Etancelin, P" uniqKey="Etancelin P">P Etancelin</name>
</author>
<author><name sortKey="Cavenagh, J" uniqKey="Cavenagh J">J Cavenagh</name>
</author>
<author><name sortKey="Barnett, Mj" uniqKey="Barnett M">MJ Barnett</name>
</author>
<author><name sortKey="Kramarzova, K" uniqKey="Kramarzova K">K Kramarzová</name>
</author>
<author><name sortKey="Krishnan, B" uniqKey="Krishnan B">B Krishnan</name>
</author>
<author><name sortKey="Matolcsy, A" uniqKey="Matolcsy A">A Matolcsy</name>
</author>
<author><name sortKey="Preudhomme, C" uniqKey="Preudhomme C">C Preudhomme</name>
</author>
<author><name sortKey="Fitzgibbon, J" uniqKey="Fitzgibbon J">J Fitzgibbon</name>
</author>
<author><name sortKey="Owen, C" uniqKey="Owen C">C Owen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Morgenstern, Jp" uniqKey="Morgenstern J">JP Morgenstern</name>
</author>
<author><name sortKey="Land, H" uniqKey="Land H">H Land</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fujiwara, T" uniqKey="Fujiwara T">T Fujiwara</name>
</author>
<author><name sortKey="O Geen, H" uniqKey="O Geen H">H O'Geen</name>
</author>
<author><name sortKey="Keles, S" uniqKey="Keles S">S Keles</name>
</author>
<author><name sortKey="Blahnik, K" uniqKey="Blahnik K">K Blahnik</name>
</author>
<author><name sortKey="Kang, Ya" uniqKey="Kang Y">YA Kang</name>
</author>
<author><name sortKey="Harigae, H" uniqKey="Harigae H">H Harigae</name>
</author>
<author><name sortKey="Choi, K" uniqKey="Choi K">K Choi</name>
</author>
<author><name sortKey="Farnham, Pj" uniqKey="Farnham P">PJ Farnham</name>
</author>
<author><name sortKey="Bresnick, Eh" uniqKey="Bresnick E">EH Bresnick</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Solchaga, La" uniqKey="Solchaga L">LA Solchaga</name>
</author>
<author><name sortKey="Penick, K" uniqKey="Penick K">K Penick</name>
</author>
<author><name sortKey="Porter, Jd" uniqKey="Porter J">JD Porter</name>
</author>
<author><name sortKey="Goldberg, Vm" uniqKey="Goldberg V">VM Goldberg</name>
</author>
<author><name sortKey="Caplan, Ai" uniqKey="Caplan A">AI Caplan</name>
</author>
<author><name sortKey="Welter, Jf" uniqKey="Welter J">JF Welter</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
<author><name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mckenna, A" uniqKey="Mckenna A">A McKenna</name>
</author>
<author><name sortKey="Hanna, M" uniqKey="Hanna M">M Hanna</name>
</author>
<author><name sortKey="Banks, E" uniqKey="Banks E">E Banks</name>
</author>
<author><name sortKey="Sivachenko, A" uniqKey="Sivachenko A">A Sivachenko</name>
</author>
<author><name sortKey="Cibulskis, K" uniqKey="Cibulskis K">K Cibulskis</name>
</author>
<author><name sortKey="Kernytsky, A" uniqKey="Kernytsky A">A Kernytsky</name>
</author>
<author><name sortKey="Garimella, K" uniqKey="Garimella K">K Garimella</name>
</author>
<author><name sortKey="Altshuler, D" uniqKey="Altshuler D">D Altshuler</name>
</author>
<author><name sortKey="Gabriel, S" uniqKey="Gabriel S">S Gabriel</name>
</author>
<author><name sortKey="Daly, M" uniqKey="Daly M">M Daly</name>
</author>
<author><name sortKey="Depristo, Ma" uniqKey="Depristo M">MA DePristo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Greenberg, Pl" uniqKey="Greenberg P">PL Greenberg</name>
</author>
<author><name sortKey="Tuechler, H" uniqKey="Tuechler H">H Tuechler</name>
</author>
<author><name sortKey="Schanz, J" uniqKey="Schanz J">J Schanz</name>
</author>
<author><name sortKey="Sanz, G" uniqKey="Sanz G">G Sanz</name>
</author>
<author><name sortKey="Garcia Manero, G" uniqKey="Garcia Manero G">G Garcia-Manero</name>
</author>
<author><name sortKey="Sole, F" uniqKey="Sole F">F Solé</name>
</author>
<author><name sortKey="Bennett, Jm" uniqKey="Bennett J">JM Bennett</name>
</author>
<author><name sortKey="Bowen, D" uniqKey="Bowen D">D Bowen</name>
</author>
<author><name sortKey="Fenaux, P" uniqKey="Fenaux P">P Fenaux</name>
</author>
<author><name sortKey="Dreyfus, F" uniqKey="Dreyfus F">F Dreyfus</name>
</author>
<author><name sortKey="Kantarjian, H" uniqKey="Kantarjian H">H Kantarjian</name>
</author>
<author><name sortKey="Kuendgen, A" uniqKey="Kuendgen A">A Kuendgen</name>
</author>
<author><name sortKey="Levis, A" uniqKey="Levis A">A Levis</name>
</author>
<author><name sortKey="Malcovati, L" uniqKey="Malcovati L">L Malcovati</name>
</author>
<author><name sortKey="Cazzola, M" uniqKey="Cazzola M">M Cazzola</name>
</author>
<author><name sortKey="Cermak, J" uniqKey="Cermak J">J Cermak</name>
</author>
<author><name sortKey="Fonatsch, C" uniqKey="Fonatsch C">C Fonatsch</name>
</author>
<author><name sortKey="Le Beau, Mm" uniqKey="Le Beau M">MM Le Beau</name>
</author>
<author><name sortKey="Slovak, Ml" uniqKey="Slovak M">ML Slovak</name>
</author>
<author><name sortKey="Krieger, O" uniqKey="Krieger O">O Krieger</name>
</author>
<author><name sortKey="Luebbert, M" uniqKey="Luebbert M">M Luebbert</name>
</author>
<author><name sortKey="Maciejewski, J" uniqKey="Maciejewski J">J Maciejewski</name>
</author>
<author><name sortKey="Magalhaes, Sm" uniqKey="Magalhaes S">SM Magalhaes</name>
</author>
<author><name sortKey="Miyazaki, Y" uniqKey="Miyazaki Y">Y Miyazaki</name>
</author>
<author><name sortKey="Pfeilstocker, M" uniqKey="Pfeilstocker M">M Pfeilstöcker</name>
</author>
<author><name sortKey="Sekeres, M" uniqKey="Sekeres M">M Sekeres</name>
</author>
<author><name sortKey="Sperr, Wr" uniqKey="Sperr W">WR Sperr</name>
</author>
<author><name sortKey="Stauder, R" uniqKey="Stauder R">R Stauder</name>
</author>
<author><name sortKey="Tauro, S" uniqKey="Tauro S">S Tauro</name>
</author>
<author><name sortKey="Valent, P" uniqKey="Valent P">P Valent</name>
</author>
<author><name sortKey="Vallespi, T" uniqKey="Vallespi T">T Vallespi</name>
</author>
<author><name sortKey="Van De Loosdrecht, Aa" uniqKey="Van De Loosdrecht A">AA van de Loosdrecht</name>
</author>
<author><name sortKey="Germing, U" uniqKey="Germing U">U Germing</name>
</author>
<author><name sortKey="Haase, D" uniqKey="Haase D">D Haase</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pittenger, Mf" uniqKey="Pittenger M">MF Pittenger</name>
</author>
<author><name sortKey="Mackay, Am" uniqKey="Mackay A">AM Mackay</name>
</author>
<author><name sortKey="Beck, Sc" uniqKey="Beck S">SC Beck</name>
</author>
<author><name sortKey="Jaiswal, Rk" uniqKey="Jaiswal R">RK Jaiswal</name>
</author>
<author><name sortKey="Douglas, R" uniqKey="Douglas R">R Douglas</name>
</author>
<author><name sortKey="Mosca, Jd" uniqKey="Mosca J">JD Mosca</name>
</author>
<author><name sortKey="Moorman, Ma" uniqKey="Moorman M">MA Moorman</name>
</author>
<author><name sortKey="Simonetti, Dw" uniqKey="Simonetti D">DW Simonetti</name>
</author>
<author><name sortKey="Craig, S" uniqKey="Craig S">S Craig</name>
</author>
<author><name sortKey="Marshak, Dr" uniqKey="Marshak D">DR Marshak</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tsai, Fy" uniqKey="Tsai F">FY Tsai</name>
</author>
<author><name sortKey="Orkin, Sh" uniqKey="Orkin S">SH Orkin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Link, Dc" uniqKey="Link D">DC Link</name>
</author>
<author><name sortKey="Schuettpelz, Lg" uniqKey="Schuettpelz L">LG Schuettpelz</name>
</author>
<author><name sortKey="Shen, D" uniqKey="Shen D">D Shen</name>
</author>
<author><name sortKey="Wang, J" uniqKey="Wang J">J Wang</name>
</author>
<author><name sortKey="Walter, Mj" uniqKey="Walter M">MJ Walter</name>
</author>
<author><name sortKey="Kulkarni, S" uniqKey="Kulkarni S">S Kulkarni</name>
</author>
<author><name sortKey="Payton, Je" uniqKey="Payton J">JE Payton</name>
</author>
<author><name sortKey="Ivanovich, J" uniqKey="Ivanovich J">J Ivanovich</name>
</author>
<author><name sortKey="Goodfellow, Pj" uniqKey="Goodfellow P">PJ Goodfellow</name>
</author>
<author><name sortKey="Le Beau, M" uniqKey="Le Beau M">M Le Beau</name>
</author>
<author><name sortKey="Koboldt, Dc" uniqKey="Koboldt D">DC Koboldt</name>
</author>
<author><name sortKey="Dooling, Dj" uniqKey="Dooling D">DJ Dooling</name>
</author>
<author><name sortKey="Fulton, Rs" uniqKey="Fulton R">RS Fulton</name>
</author>
<author><name sortKey="Bender, Rh" uniqKey="Bender R">RH Bender</name>
</author>
<author><name sortKey="Fulton, Ll" uniqKey="Fulton L">LL Fulton</name>
</author>
<author><name sortKey="Delehaunty, Kd" uniqKey="Delehaunty K">KD Delehaunty</name>
</author>
<author><name sortKey="Fronick, Cc" uniqKey="Fronick C">CC Fronick</name>
</author>
<author><name sortKey="Appelbaum, El" uniqKey="Appelbaum E">EL Appelbaum</name>
</author>
<author><name sortKey="Schmidt, H" uniqKey="Schmidt H">H Schmidt</name>
</author>
<author><name sortKey="Abbott, R" uniqKey="Abbott R">R Abbott</name>
</author>
<author><name sortKey="O Laughlin, M" uniqKey="O Laughlin M">M O'Laughlin</name>
</author>
<author><name sortKey="Chen, K" uniqKey="Chen K">K Chen</name>
</author>
<author><name sortKey="Mclellan, Md" uniqKey="Mclellan M">MD McLellan</name>
</author>
<author><name sortKey="Varghese, N" uniqKey="Varghese N">N Varghese</name>
</author>
<author><name sortKey="Nagarajan, R" uniqKey="Nagarajan R">R Nagarajan</name>
</author>
<author><name sortKey="Heath, S" uniqKey="Heath S">S Heath</name>
</author>
<author><name sortKey="Graubert, Ta" uniqKey="Graubert T">TA Graubert</name>
</author>
<author><name sortKey="Ding, L" uniqKey="Ding L">L Ding</name>
</author>
<author><name sortKey="Ley, Tj" uniqKey="Ley T">TJ Ley</name>
</author>
<author><name sortKey="Zambetti, Gp" uniqKey="Zambetti G">GP Zambetti</name>
</author>
<author><name sortKey="Wilson, Rk" uniqKey="Wilson R">RK Wilson</name>
</author>
<author><name sortKey="Mardis, Er" uniqKey="Mardis E">ER Mardis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Suzuki, S" uniqKey="Suzuki S">S Suzuki</name>
</author>
<author><name sortKey="Yasuda, T" uniqKey="Yasuda T">T Yasuda</name>
</author>
<author><name sortKey="Shiraishi, Y" uniqKey="Shiraishi Y">Y Shiraishi</name>
</author>
<author><name sortKey="Miyano, S" uniqKey="Miyano S">S Miyano</name>
</author>
<author><name sortKey="Nagasaki, M" uniqKey="Nagasaki M">M Nagasaki</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muller, J" uniqKey="Muller J">J Müller</name>
</author>
<author><name sortKey="Hart, Cm" uniqKey="Hart C">CM Hart</name>
</author>
<author><name sortKey="Francis, Nj" uniqKey="Francis N">NJ Francis</name>
</author>
<author><name sortKey="Vargas, Ml" uniqKey="Vargas M">ML Vargas</name>
</author>
<author><name sortKey="Sengupta, A" uniqKey="Sengupta A">A Sengupta</name>
</author>
<author><name sortKey="Wild, B" uniqKey="Wild B">B Wild</name>
</author>
<author><name sortKey="Miller, El" uniqKey="Miller E">EL Miller</name>
</author>
<author><name sortKey="O Connor, Mb" uniqKey="O Connor M">MB O'Connor</name>
</author>
<author><name sortKey="Kingston, Re" uniqKey="Kingston R">RE Kingston</name>
</author>
<author><name sortKey="Simon, Ja" uniqKey="Simon J">JA Simon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Cazzola, M" uniqKey="Cazzola M">M Cazzola</name>
</author>
<author><name sortKey="Della Porta, Mg" uniqKey="Della Porta M">MG Della Porta</name>
</author>
<author><name sortKey="Malcovati, L" uniqKey="Malcovati L">L Malcovati</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yu, J" uniqKey="Yu J">J Yu</name>
</author>
<author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name>
</author>
<author><name sortKey="Ishizuka, T" uniqKey="Ishizuka T">T Ishizuka</name>
</author>
<author><name sortKey="Guenther, Mg" uniqKey="Guenther M">MG Guenther</name>
</author>
<author><name sortKey="Lazar, Ma" uniqKey="Lazar M">MA Lazar</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mccabe, Mt" uniqKey="Mccabe M">MT McCabe</name>
</author>
<author><name sortKey="Ott, Hm" uniqKey="Ott H">HM Ott</name>
</author>
<author><name sortKey="Ganji, G" uniqKey="Ganji G">G Ganji</name>
</author>
<author><name sortKey="Korenchuk, S" uniqKey="Korenchuk S">S Korenchuk</name>
</author>
<author><name sortKey="Thompson, C" uniqKey="Thompson C">C Thompson</name>
</author>
<author><name sortKey="Van Aller, Gs" uniqKey="Van Aller G">GS Van Aller</name>
</author>
<author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name>
</author>
<author><name sortKey="Graves, Ap" uniqKey="Graves A">AP Graves</name>
</author>
<author><name sortKey="Della Pietra, A" uniqKey="Della Pietra A">A Della Pietra</name>
</author>
<author><name sortKey="Diaz, E" uniqKey="Diaz E">E Diaz</name>
</author>
<author><name sortKey="Lafrance, Lv" uniqKey="Lafrance L">LV LaFrance</name>
</author>
<author><name sortKey="Mellinger, M" uniqKey="Mellinger M">M Mellinger</name>
</author>
<author><name sortKey="Duquenne, C" uniqKey="Duquenne C">C Duquenne</name>
</author>
<author><name sortKey="Tian, X" uniqKey="Tian X">X Tian</name>
</author>
<author><name sortKey="Kruger, Rg" uniqKey="Kruger R">RG Kruger</name>
</author>
<author><name sortKey="Mchugh, Cf" uniqKey="Mchugh C">CF McHugh</name>
</author>
<author><name sortKey="Brandt, M" uniqKey="Brandt M">M Brandt</name>
</author>
<author><name sortKey="Miller, Wh" uniqKey="Miller W">WH Miller</name>
</author>
<author><name sortKey="Dhanak, D" uniqKey="Dhanak D">D Dhanak</name>
</author>
<author><name sortKey="Verma, Sk" uniqKey="Verma S">SK Verma</name>
</author>
<author><name sortKey="Tummino, Pj" uniqKey="Tummino P">PJ Tummino</name>
</author>
<author><name sortKey="Creasy, Cl" uniqKey="Creasy C">CL Creasy</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muralikrishna, B" uniqKey="Muralikrishna B">B Muralikrishna</name>
</author>
<author><name sortKey="Chaturvedi, P" uniqKey="Chaturvedi P">P Chaturvedi</name>
</author>
<author><name sortKey="Sinha, K" uniqKey="Sinha K">K Sinha</name>
</author>
<author><name sortKey="Parnaik, Vk" uniqKey="Parnaik V">VK Parnaik</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Frisan, E" uniqKey="Frisan E">E Frisan</name>
</author>
<author><name sortKey="Vandekerckhove, J" uniqKey="Vandekerckhove J">J Vandekerckhove</name>
</author>
<author><name sortKey="De Thonel, A" uniqKey="De Thonel A">A de Thonel</name>
</author>
<author><name sortKey="Pierre Eugene, C" uniqKey="Pierre Eugene C">C Pierre-Eugène</name>
</author>
<author><name sortKey="Sternberg, A" uniqKey="Sternberg A">A Sternberg</name>
</author>
<author><name sortKey="Arlet, Jb" uniqKey="Arlet J">JB Arlet</name>
</author>
<author><name sortKey="Floquet, C" uniqKey="Floquet C">C Floquet</name>
</author>
<author><name sortKey="Gyan, E" uniqKey="Gyan E">E Gyan</name>
</author>
<author><name sortKey="Kosmider, O" uniqKey="Kosmider O">O Kosmider</name>
</author>
<author><name sortKey="Dreyfus, F" uniqKey="Dreyfus F">F Dreyfus</name>
</author>
<author><name sortKey="Gabet, As" uniqKey="Gabet A">AS Gabet</name>
</author>
<author><name sortKey="Courtois, G" uniqKey="Courtois G">G Courtois</name>
</author>
<author><name sortKey="Vyas, P" uniqKey="Vyas P">P Vyas</name>
</author>
<author><name sortKey="Ribeil, Ja" uniqKey="Ribeil J">JA Ribeil</name>
</author>
<author><name sortKey="Zermati, Y" uniqKey="Zermati Y">Y Zermati</name>
</author>
<author><name sortKey="Lacombe, C" uniqKey="Lacombe C">C Lacombe</name>
</author>
<author><name sortKey="Mayeux, P" uniqKey="Mayeux P">P Mayeux</name>
</author>
<author><name sortKey="Solary, E" uniqKey="Solary E">E Solary</name>
</author>
<author><name sortKey="Garrido, C" uniqKey="Garrido C">C Garrido</name>
</author>
<author><name sortKey="Hermine, O" uniqKey="Hermine O">O Hermine</name>
</author>
<author><name sortKey="Fontenay, M" uniqKey="Fontenay M">M Fontenay</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006627 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 006627 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:4119934 |texte= Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:24782121" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |