Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.
Identifieur interne : 000644 ( Main/Exploration ); précédent : 000643; suivant : 000645Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.
Auteurs : Gang Liu [République populaire de Chine] ; Shanshan Guo [République populaire de Chine] ; Gregory J. Anderson [Australie] ; Clara Camaschella [Italie] ; Bing Han [République populaire de Chine] ; Guangjun Nie [République populaire de Chine]Source :
- Blood [ 1528-0020 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- Wicri :
- geographic : République populaire de Chine.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Glutaredoxins.
- geographic : China.
- genetics : Anemia, Sideroblastic, Genetic Predisposition to Disease.
- Heterozygote, Humans, Male, Middle Aged, Mutation, Missense.
DOI: 10.1182/blood-2014-08-598508
PubMed: 25342667
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Chinese Academy of Sciences Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing</wicri:regionArea><placeName><settlement type="city">Pékin</settlement></placeName></affiliation></author></analytic><series><title level="j">Blood</title><idno type="eISSN">1528-0020</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anemia, Sideroblastic (genetics)</term><term>China (MeSH)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Glutaredoxins (genetics)</term><term>Heterozygote (MeSH)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Middle Aged (MeSH)</term><term>Mutation, Missense (MeSH)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen (MeSH)</term><term>Anémie sidéroblastique (génétique)</term><term>Chine (MeSH)</term><term>Glutarédoxines (génétique)</term><term>Humains (MeSH)</term><term>Hétérozygote (MeSH)</term><term>Mutation faux-sens (MeSH)</term><term>Mâle (MeSH)</term><term>Prédisposition génétique à une maladie (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glutaredoxins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>China</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anemia, Sideroblastic</term><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anémie sidéroblastique</term><term>Glutarédoxines</term><term>Prédisposition génétique à une maladie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Chine</term><term>Humains</term><term>Hétérozygote</term><term>Mutation faux-sens</term><term>Mâle</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>République populaire de Chine</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25342667</PMID><DateCompleted><Year>2015</Year><Month>01</Month><Day>26</Day></DateCompleted><DateRevised><Year>2014</Year><Month>10</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1528-0020</ISSN><JournalIssue CitedMedium="Internet"><Volume>124</Volume><Issue>17</Issue><PubDate><Year>2014</Year><Month>Oct</Month><Day>23</Day></PubDate></JournalIssue><Title>Blood</Title><ISOAbbreviation>Blood</ISOAbbreviation></Journal><ArticleTitle>Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.</ArticleTitle><Pagination><MedlinePgn>2750-1</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1182/blood-2014-08-598508</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Liu</LastName><ForeName>Gang</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Chinese Academy of Sciences Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guo</LastName><ForeName>Shanshan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Chinese Academy of Sciences Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Anderson</LastName><ForeName>Gregory J</ForeName><Initials>GJ</Initials><AffiliationInfo><Affiliation>Iron Metabolism Laboratory, Queensland Institute of Medical Research Berghofer Medical Research Institute, Brisbane, QLD, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Camaschella</LastName><ForeName>Clara</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Vita-Salute University and Istituto Di Ricovero e Cura a Carattere Scientifico, San Raffaele Scientific Institute, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Han</LastName><ForeName>Bing</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nie</LastName><ForeName>Guangjun</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Chinese Academy of Sciences Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, National Center for Nanoscience and Technology, Beijing, China.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016422">Letter</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Blood</MedlineTA><NlmUniqueID>7603509</NlmUniqueID><ISSNLinking>0006-4971</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C516011">GLRX5 protein, 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MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>10</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>10</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>1</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25342667</ArticleId><ArticleId IdType="pii">124/17/2750</ArticleId><ArticleId IdType="doi">10.1182/blood-2014-08-598508</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>Italie</li><li>République populaire de Chine</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li><li>Pékin</li></settlement></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Liu, Gang" sort="Liu, Gang" uniqKey="Liu G" first="Gang" last="Liu">Gang Liu</name></noRegion><name sortKey="Guo, Shanshan" sort="Guo, Shanshan" uniqKey="Guo S" first="Shanshan" last="Guo">Shanshan Guo</name><name sortKey="Han, Bing" sort="Han, Bing" uniqKey="Han B" first="Bing" last="Han">Bing Han</name><name sortKey="Nie, Guangjun" sort="Nie, Guangjun" uniqKey="Nie G" first="Guangjun" last="Nie">Guangjun Nie</name></country><country name="Australie"><noRegion><name sortKey="Anderson, Gregory J" sort="Anderson, Gregory J" uniqKey="Anderson G" first="Gregory J" last="Anderson">Gregory J. Anderson</name></noRegion></country><country name="Italie"><region name="Lombardie"><name sortKey="Camaschella, Clara" sort="Camaschella, Clara" uniqKey="Camaschella C" first="Clara" last="Camaschella">Clara Camaschella</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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