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Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.
Sinnema, Margje; Song, Daisheng; Guan, Wei; Janssen, Johanna W H; van Wijk, Richard; Navalsky, Bradleigh E; Peng, Kai; Donker, Albertine E; Stegmann, Alexander P A; Lee, Frank S.
Afiliação
  • Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Song D; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Guan W; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Janssen JWH; Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • van Wijk R; Hubei Province Key Laboratory of Molecular Imaging, Wuhan, China.
  • Navalsky BE; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Peng K; Department of Clinical Chemistry and Hematology, University Medical Center Utrecht, Utrecht, The Netherlands; and.
  • Donker AE; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Stegmann APA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Lee FS; Department of Pediatric Hematology, Maxima Medical Center, Veldhoven, The Netherlands.
Blood ; 132(13): 1455-1458, 2018 09 27.
Article em En | MEDLINE | ID: mdl-30111608
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Policitemia / Prolina Dioxigenases do Fator Induzível por Hipóxia / Mutação com Perda de Função Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Policitemia / Prolina Dioxigenases do Fator Induzível por Hipóxia / Mutação com Perda de Função Idioma: En Ano de publicação: 2018 Tipo de documento: Article