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Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.
Muckenthaler, Lena; Marques, Oriana; Colucci, Silvia; Kunz, Joachim; Fabrowski, Piotr; Bast, Thomas; Altamura, Sandro; Höchsmann, Britta; Schrezenmeier, Hubert; Langlotz, Monika; Richter-Pechanska, Paulina; Rausch, Tobias; Hofmeister-Mielke, Nicole; Gunkel, Nikolas; Hentze, Matthias W; Kulozik, Andreas E; Muckenthaler, Martina U.
Afiliação
  • Muckenthaler L; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Marques O; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
  • Colucci S; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Kunz J; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
  • Fabrowski P; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Bast T; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
  • Altamura S; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Höchsmann B; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
  • Schrezenmeier H; Cancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Langlotz M; Pediatric Epilepsy Centre, Diaconia Kork, Kehl-Kork, Germany.
  • Richter-Pechanska P; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Rausch T; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
  • Hofmeister-Mielke N; Department of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany.
  • Gunkel N; Department of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany.
  • Hentze MW; Flow Cytometry & FACS Core Facility, Centre of Molecular Biology, University of Heidelberg, Heidelberg, Germany.
  • Kulozik AE; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.
  • Muckenthaler MU; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.
Blood ; 139(9): 1418-1422, 2022 03 03.
Article em En | MEDLINE | ID: mdl-34875027
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemocromatose / Proteínas de Membrana / Mutação / Doenças do Sistema Nervoso Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemocromatose / Proteínas de Membrana / Mutação / Doenças do Sistema Nervoso Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article