ChloroquineV1, Ncbi, Merge, bibRecord, 000352

Lung disease caused by ABCA3 mutations.

Identifieur interne : 000352 ( Ncbi/Merge ); précédent : 000351; suivant : 000353

Lung disease caused by ABCA3 mutations.

Auteurs : Carolin Kröner [Allemagne] ; Thomas Wittmann [Allemagne] ; Simone Reu [Allemagne] ; Veronika Teusch [Allemagne] ; Mathias Klemme [Allemagne] ; Daniela Rauch [Allemagne] ; Meike Hengst [Allemagne] ; Matthias Kappler [Allemagne] ; Nazan Cobanoglu [Turquie] ; Tugba Sismanlar [Turquie] ; Ayse T. Aslan [Turquie] ; Ilaria Campo [Italie] ; Marijke Proesmans [Belgique] ; Thomas Schaible [Allemagne] ; Susanne Terheggen-Lagro [Pays-Bas] ; Nicolas Regamey [Suisse] ; Ernst Eber [Autriche] ; Jürgen Seidenberg [Allemagne] ; Nicolaus Schwerk [Allemagne] ; Charalampos Aslanidis [Allemagne] ; Peter Lohse [Allemagne] ; Frank Brasch [Allemagne] ; Ralf Zarbock [Allemagne] ; Matthias Griese [Allemagne]

Source :

Thorax [ 1468-3296 ] ; 2017.

RBID : pubmed:27516224

Descripteurs français

KwdFr :
- Adolescent, Adulte, Analyse de survie, Biopsie, Consanguinité, Diagnostic par imagerie, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Immunohistochimie, Liquide de lavage bronchoalvéolaire (), Microscopie électronique, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (mortalité), Transporteurs ABC (génétique), Études rétrospectives.
MESH :
- génétique : Pneumopathies interstitielles, Transporteurs ABC.
- mortalité : Pneumopathies interstitielles.
- Adolescent, Adulte, Analyse de survie, Biopsie, Consanguinité, Diagnostic par imagerie, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Immunohistochimie, Liquide de lavage bronchoalvéolaire, Microscopie électronique, Mutation, Mâle, Nourrisson, Nouveau-né, Phénotype, Études rétrospectives.

English descriptors

KwdEn :
- ATP-Binding Cassette Transporters (genetics), Adolescent, Adult, Biopsy, Bronchoalveolar Lavage Fluid (chemistry), Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (mortality), Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.
MESH :
- chemical , genetics : ATP-Binding Cassette Transporters.
- chemistry : Bronchoalveolar Lavage Fluid.
- genetics : Lung Diseases, Interstitial.
- mortality : Lung Diseases, Interstitial.
- Adolescent, Adult, Biopsy, Child, Child, Preschool, Consanguinity, Diagnostic Imaging, Female, Genotype, Humans, Immunohistochemistry, Infant, Infant, Newborn, Male, Microscopy, Electron, Mutation, Phenotype, Retrospective Studies, Survival Analysis.

Abstract

Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.

DOI: 10.1136/thoraxjnl-2016-208649
PubMed: 27516224

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 000198
to stream PubMed, to step Curation: 000198
to stream PubMed, to step Checkpoint: 000160

Links to Exploration step

pubmed:27516224

Le document en format XML

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<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
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<author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name>
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<author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name>
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<author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name>
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<author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name>
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<author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name>
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<author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name>
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<author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name>
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<author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name>
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<author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg</wicri:regionArea>
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<author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name>
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<author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name>
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<author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld</wicri:regionArea>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
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<region type="district" nuts="2">District de Haute-Bavière</region>
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<author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
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<region type="district" nuts="2">District de Haute-Bavière</region>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Lung disease caused by <i>ABCA3</i>
 mutations.</title>
<author><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name>
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<author><name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name>
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<author><name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name>
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<wicri:regionArea>Department of Pathology, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
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<author><name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
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<region type="district" nuts="2">District de Haute-Bavière</region>
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<author><name sortKey="Klemme, Mathias" sort="Klemme, Mathias" uniqKey="Klemme M" first="Mathias" last="Klemme">Mathias Klemme</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
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<author><name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name>
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<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hengst, Meike" sort="Hengst, Meike" uniqKey="Hengst M" first="Meike" last="Hengst">Meike Hengst</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kappler, Matthias" sort="Kappler, Matthias" uniqKey="Kappler M" first="Matthias" last="Kappler">Matthias Kappler</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sismanlar, Tugba" sort="Sismanlar, Tugba" uniqKey="Sismanlar T" first="Tugba" last="Sismanlar">Tugba Sismanlar</name>
<affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name>
<affiliation wicri:level="1"><nlm:affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Gazi University Hospital, Ankara University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Campo, Ilaria" sort="Campo, Ilaria" uniqKey="Campo I" first="Ilaria" last="Campo">Ilaria Campo</name>
<affiliation wicri:level="1"><nlm:affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neonatology, University Hospital, University Mannheim, Mannheim</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Karlsruhe</region>
<settlement type="city">Mannheim</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name>
<affiliation wicri:level="3"><nlm:affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Emma Children's Hospital, Academic Medical Center, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</nlm:affiliation>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Department of Pediatric Pneumology, Children's Hospital, Lucerne</wicri:regionArea>
<wicri:noRegion>Lucerne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz</wicri:regionArea>
<wicri:noRegion>Graz</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg</wicri:regionArea>
<wicri:noRegion>Oldenburg</wicri:noRegion>
<wicri:noRegion>Oldenburg</wicri:noRegion>
<wicri:noRegion>Oldenburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<affiliation wicri:level="3"><nlm:affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aslanidis, Charalampos" sort="Aslanidis, Charalampos" uniqKey="Aslanidis C" first="Charalampos" last="Aslanidis">Charalampos Aslanidis</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg</wicri:regionArea>
<wicri:noRegion>Regensburg</wicri:noRegion>
<wicri:noRegion>Regensburg</wicri:noRegion>
<wicri:noRegion>Regensburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lohse, Peter" sort="Lohse, Peter" uniqKey="Lohse P" first="Peter" last="Lohse">Peter Lohse</name>
<affiliation wicri:level="1"><nlm:affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Hohentwielstr. 32, 78250 Tengen</wicri:regionArea>
<wicri:noRegion>78250 Tengen</wicri:noRegion>
<wicri:noRegion>78250 Tengen</wicri:noRegion>
<wicri:noRegion>78250 Tengen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brasch, Frank" sort="Brasch, Frank" uniqKey="Brasch F" first="Frank" last="Brasch">Frank Brasch</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld</wicri:regionArea>
<wicri:noRegion>Bielefeld</wicri:noRegion>
<wicri:noRegion>Bielefeld</wicri:noRegion>
<wicri:noRegion>Bielefeld</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Griese, Matthias" sort="Griese, Matthias" uniqKey="Griese M" first="Matthias" last="Griese">Matthias Griese</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Thorax</title>
<idno type="eISSN">1468-3296</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP-Binding Cassette Transporters (genetics)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Biopsy</term>
<term>Bronchoalveolar Lavage Fluid (chemistry)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Diagnostic Imaging</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lung Diseases, Interstitial (genetics)</term>
<term>Lung Diseases, Interstitial (mortality)</term>
<term>Male</term>
<term>Microscopy, Electron</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Retrospective Studies</term>
<term>Survival Analysis</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Analyse de survie</term>
<term>Biopsie</term>
<term>Consanguinité</term>
<term>Diagnostic par imagerie</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Liquide de lavage bronchoalvéolaire ()</term>
<term>Microscopie électronique</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Pneumopathies interstitielles (génétique)</term>
<term>Pneumopathies interstitielles (mortalité)</term>
<term>Transporteurs ABC (génétique)</term>
<term>Études rétrospectives</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>ATP-Binding Cassette Transporters</term>
</keywords>
<keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Bronchoalveolar Lavage Fluid</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term>
<term>Transporteurs ABC</term>
</keywords>
<keywords scheme="MESH" qualifier="mortality" xml:lang="en"><term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="mortalité" xml:lang="fr"><term>Pneumopathies interstitielles</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Biopsy</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Consanguinity</term>
<term>Diagnostic Imaging</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Microscopy, Electron</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Retrospective Studies</term>
<term>Survival Analysis</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Analyse de survie</term>
<term>Biopsie</term>
<term>Consanguinité</term>
<term>Diagnostic par imagerie</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Génotype</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Liquide de lavage bronchoalvéolaire</term>
<term>Microscopie électronique</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
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<front><div type="abstract" xml:lang="en">Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27516224</PMID>
<DateCompleted><Year>2017</Year>
<Month>06</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2018</Year>
<Month>02</Month>
<Day>12</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-3296</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>72</Volume>
<Issue>3</Issue>
<PubDate><Year>2017</Year>
<Month>03</Month>
</PubDate>
</JournalIssue>
<Title>Thorax</Title>
<ISOAbbreviation>Thorax</ISOAbbreviation>
</Journal>
<ArticleTitle>Lung disease caused by <i>ABCA3</i>
 mutations.</ArticleTitle>
<Pagination><MedlinePgn>213-220</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1136/thoraxjnl-2016-208649</ELocationID>
<Abstract><AbstractText Label="BACKGROUND">Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.</AbstractText>
<AbstractText Label="METHODS">We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015.</AbstractText>
<AbstractText Label="RESULTS">Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects.</AbstractText>
<AbstractText Label="CONCLUSIONS">Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was <20%. Response to therapies needs to be ascertained in randomised controlled trials.</AbstractText>
<CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kröner</LastName>
<ForeName>Carolin</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wittmann</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Reu</LastName>
<ForeName>Simone</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Pathology, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Teusch</LastName>
<ForeName>Veronika</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Klemme</LastName>
<ForeName>Mathias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rauch</LastName>
<ForeName>Daniela</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hengst</LastName>
<ForeName>Meike</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kappler</LastName>
<ForeName>Matthias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cobanoglu</LastName>
<ForeName>Nazan</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sismanlar</LastName>
<ForeName>Tugba</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aslan</LastName>
<ForeName>Ayse T</ForeName>
<Initials>AT</Initials>
<AffiliationInfo><Affiliation>Gazi University Hospital, Ankara University, Ankara, Turkey.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Campo</LastName>
<ForeName>Ilaria</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Proesmans</LastName>
<ForeName>Marijke</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schaible</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Terheggen-Lagro</LastName>
<ForeName>Susanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Regamey</LastName>
<ForeName>Nicolas</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Eber</LastName>
<ForeName>Ernst</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Seidenberg</LastName>
<ForeName>Jürgen</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Schwerk</LastName>
<ForeName>Nicolaus</ForeName>
<Initials>N</Initials>
<AffiliationInfo><Affiliation>Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Aslanidis</LastName>
<ForeName>Charalampos</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lohse</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Hohentwielstr. 32, 78250 Tengen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brasch</LastName>
<ForeName>Frank</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Zarbock</LastName>
<ForeName>Ralf</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Griese</LastName>
<ForeName>Matthias</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>08</Month>
<Day>11</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Thorax</MedlineTA>
<NlmUniqueID>0417353</NlmUniqueID>
<ISSNLinking>0040-6376</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C441524">ABCA3 protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D018528">ATP-Binding Cassette Transporters</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D018528" MajorTopicYN="N">ATP-Binding Cassette Transporters</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D001706" MajorTopicYN="N">Biopsy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D001992" MajorTopicYN="N">Bronchoalveolar Lavage Fluid</DescriptorName>
<QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003952" MajorTopicYN="N">Diagnostic Imaging</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007150" MajorTopicYN="N">Immunohistochemistry</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
<QualifierName UI="Q000401" MajorTopicYN="N">mortality</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008854" MajorTopicYN="N">Microscopy, Electron</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D016019" MajorTopicYN="N">Survival Analysis</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">ABCA3</Keyword>
<Keyword MajorTopicYN="Y">Paediatric interstitial lung disease</Keyword>
<Keyword MajorTopicYN="Y">Surfactant protein</Keyword>
</KeywordList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year>
<Month>03</Month>
<Day>29</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2016</Year>
<Month>06</Month>
<Day>07</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2016</Year>
<Month>07</Month>
<Day>12</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2016</Year>
<Month>8</Month>
<Day>16</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2017</Year>
<Month>6</Month>
<Day>15</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2016</Year>
<Month>8</Month>
<Day>13</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">27516224</ArticleId>
<ArticleId IdType="pii">thoraxjnl-2016-208649</ArticleId>
<ArticleId IdType="doi">10.1136/thoraxjnl-2016-208649</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Allemagne</li>
<li>Autriche</li>
<li>Belgique</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Suisse</li>
<li>Turquie</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>Basse-Saxe</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>District de Karlsruhe</li>
<li>Hollande-Septentrionale</li>
</region>
<settlement><li>Amsterdam</li>
<li>Hanovre</li>
<li>Mannheim</li>
<li>Munich</li>
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<tree><country name="Allemagne"><region name="Bavière"><name sortKey="Kroner, Carolin" sort="Kroner, Carolin" uniqKey="Kroner C" first="Carolin" last="Kröner">Carolin Kröner</name>
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<name sortKey="Rauch, Daniela" sort="Rauch, Daniela" uniqKey="Rauch D" first="Daniela" last="Rauch">Daniela Rauch</name>
<name sortKey="Reu, Simone" sort="Reu, Simone" uniqKey="Reu S" first="Simone" last="Reu">Simone Reu</name>
<name sortKey="Schaible, Thomas" sort="Schaible, Thomas" uniqKey="Schaible T" first="Thomas" last="Schaible">Thomas Schaible</name>
<name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name>
<name sortKey="Seidenberg, Jurgen" sort="Seidenberg, Jurgen" uniqKey="Seidenberg J" first="Jürgen" last="Seidenberg">Jürgen Seidenberg</name>
<name sortKey="Teusch, Veronika" sort="Teusch, Veronika" uniqKey="Teusch V" first="Veronika" last="Teusch">Veronika Teusch</name>
<name sortKey="Wittmann, Thomas" sort="Wittmann, Thomas" uniqKey="Wittmann T" first="Thomas" last="Wittmann">Thomas Wittmann</name>
<name sortKey="Zarbock, Ralf" sort="Zarbock, Ralf" uniqKey="Zarbock R" first="Ralf" last="Zarbock">Ralf Zarbock</name>
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<country name="Turquie"><noRegion><name sortKey="Cobanoglu, Nazan" sort="Cobanoglu, Nazan" uniqKey="Cobanoglu N" first="Nazan" last="Cobanoglu">Nazan Cobanoglu</name>
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<name sortKey="Aslan, Ayse T" sort="Aslan, Ayse T" uniqKey="Aslan A" first="Ayse T" last="Aslan">Ayse T. Aslan</name>
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<country name="Belgique"><noRegion><name sortKey="Proesmans, Marijke" sort="Proesmans, Marijke" uniqKey="Proesmans M" first="Marijke" last="Proesmans">Marijke Proesmans</name>
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<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Terheggen Lagro, Susanne" sort="Terheggen Lagro, Susanne" uniqKey="Terheggen Lagro S" first="Susanne" last="Terheggen-Lagro">Susanne Terheggen-Lagro</name>
</region>
</country>
<country name="Suisse"><noRegion><name sortKey="Regamey, Nicolas" sort="Regamey, Nicolas" uniqKey="Regamey N" first="Nicolas" last="Regamey">Nicolas Regamey</name>
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<country name="Autriche"><noRegion><name sortKey="Eber, Ernst" sort="Eber, Ernst" uniqKey="Eber E" first="Ernst" last="Eber">Ernst Eber</name>
</noRegion>
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</tree>
</affiliations>
</record>

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   |texte=   Lung disease caused by ABCA3 mutations.
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	Serveur d'exploration Chloroquine
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Serveur d'exploration Chloroquine

Lung disease caused by ABCA3 mutations.

Lung disease caused by ABCA3 mutations.

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