Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

Autor: Muckenthaler L; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Marques O; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; 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.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Kunz J; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Fabrowski P; Cancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Bast T; Pediatric Epilepsy Centre, Diaconia Kork, Kehl-Kork, Germany., Altamura S; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Höchsmann B; Department of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany., Schrezenmeier H; Department of Transfusion Medicine and Immunogenetics, University Hospital Ulm, Ulm, Germany., Langlotz M; Flow Cytometry & FACS Core Facility, Centre of Molecular Biology, University of Heidelberg, Heidelberg, Germany., Richter-Pechanska P; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Rausch T; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.; Genome Biology Unit, EMBL, Heidelberg, Germany., Hofmeister-Mielke N; Laboratory for Hematological Diagnostics, University Heidelberg, Heidelberg, Germany., Gunkel N; Cancer Drug Development Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hentze MW; EMBL, Heidelberg, Germany., Kulozik AE; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany., Muckenthaler MU; Department of Pediatric Oncology, Hematology and Immunology and Hopp Children Cancer Center, University Hospital Heidelberg, Heidelberg, Germany.; Molecular Medicine Partnership Unit, European Molecular Biology Laboratory (EMBL), University of Heidelberg, Heidelberg, Germany.; Translational Lung Research Center (TLRC) Heidelberg, German Center for Lung Research, University of Heidelberg, Heidelberg, Germany; and.; German Centre for Cardiovascular Research (DZHK), Partner Site, Heidelberg/Mannheim, Germany.
Jazyk: angličtina
Zdroj: Blood [Blood] 2022 Mar 03; Vol. 139 (9), pp. 1418-1422.
DOI: 10.1182/blood.2021013519
Databáze: MEDLINE