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SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney, Matthew M; Berhe, Simon; Campagna, Dean R; Oved, Joseph H; Kurre, Peter; Shaw, Peter J; Teo, Juliana; Shanap, Mayada A; Hassab, Hoda M; Glader, Bertil E; Shah, Sanjay; Yoshimi, Ayami; Ameri, Afshin; Antin, Joseph H; Boudreaux, Jeanne; Briones, Michael; Dickerson, Kathryn E; Fernandez, Conrad V; Farah, Roula; Hasle, Henrik; Keel, Sioban B; Olson, Timothy S; Powers, Jacquelyn M; Rose, Melissa J; Shimamura, Akiko; Bottomley, Sylvia S; Fleming, Mark D.
Afiliação
  • Heeney MM; Division of Hematology, Dana-Farber Boston Children's Cancer and Blood Disorders Center and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Berhe S; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Campagna DR; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Oved JH; Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Philadelphia, USA.
  • Kurre P; Pediatric Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Shaw PJ; BMT Services, Children's Hospital at Westmead; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Teo J; Department of Haematology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Shanap MA; King Hussein Medical Center, Amman, Jordan.
  • Hassab HM; Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Glader BE; Division of Hematology-Oncology, Lucille Packard Children's Hospital, Stanford, California, USA.
  • Shah S; Center for Cancer and Blood Disorders, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Yoshimi A; Department of Paediatrics and Adolescent Medicine, Division of Paediatric Haematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Ameri A; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Augusta University, Augusta, Georgia, USA.
  • Antin JH; Hematopoietic Stem Cell Transplantation Program, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, Massachusetts, USA.
  • Boudreaux J; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
  • Briones M; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
  • Dickerson KE; Department of Pediatrics, University of Texas Southwestern, Dallas, Texas, USA.
  • Fernandez CV; Division of Hematology-Oncology, IWH Center, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Farah R; Department of Pediatrics, Lebanese American University Medical Center, Beirut, Lebanon.
  • Hasle H; Department of Pediatrics, Aarhus University Hospital, Aarhus University, Aarhus, Denmark.
  • Keel SB; Division of Hematology, University of Washington and Seattle Cancer Care Alliance, Seattle, Washington, USA.
  • Olson TS; Cellular Therapy and Transplant Section, Division of Oncology and Comprehensive Bone Marrow Failure Center, Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Powers JM; Texas Children's Hospital and Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA.
  • Rose MJ; Division of Hematology & Oncology, Nationwide Children's Hospital, Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
  • Shimamura A; Division of Hematology, Dana-Farber Boston Children's Cancer and Blood Disorders Center and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
  • Bottomley SS; Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA.
  • Fleming MD; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Hum Mutat ; 42(11): 1367-1383, 2021 11.
Article em En | MEDLINE | ID: mdl-34298585
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte da Membrana Mitocondrial / Genótipo / Anemia Sideroblástica / Mutação Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte da Membrana Mitocondrial / Genótipo / Anemia Sideroblástica / Mutação Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article