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Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe, Klaus; Ciesielski, Szymon J; Schmidt, Paul J; Campagna, Dean R; Rahimov, Fedik; Schilke, Brenda A; Cuijpers, Marloes; Rieneck, Klaus; Lausen, Birgitte; Linenberger, Michael L; Sendamarai, Anoop K; Guo, Chaoshe; Hofmann, Inga; Newburger, Peter E; Matthews, Dana; Shimamura, Akiko; Snijders, Pieter J L M; Towne, Meghan C; Niemeyer, Charlotte M; Watson, Henry G; Dziegiel, Morten H; Heeney, Matthew M; May, Alison; Bottomley, Sylvia S; Swinkels, Dorine W; Markianos, Kyriacos; Craig, Elizabeth A; Fleming, Mark D.
Afiliação
  • Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
  • Ciesielski SJ; Department of Biochemistry, University of Wisconsin, Madison, WI;
  • Schmidt PJ; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
  • Campagna DR; Department of Pathology, Boston Children's Hospital, Boston, MA;
  • Rahimov F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
  • Schilke BA; Department of Biochemistry, University of Wisconsin, Madison, WI;
  • Cuijpers M; Department of Internal Medicine, Viecuri Medical Centre, Venlo, The Netherlands;
  • Rieneck K; Department of Clinical Immunology, and.
  • Lausen B; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark;
  • Linenberger ML; Division of Hematology, University of Washington, Seattle, WA;
  • Sendamarai AK; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
  • Guo C; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
  • Hofmann I; Harvard Medical School, Boston, MA; Department of Pediatrics, Dana-Farber Cancer Institute-Boston Children's Center for Cancer and Blood Disorders, Boston, MA;
  • Newburger PE; Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA;
  • Matthews D; Division of Hematology, Seattle Children's Hospital, Seattle, WA;
  • Shimamura A; Division of Hematology, Seattle Children's Hospital, Seattle, WA;
  • Snijders PJ; Huisartsenteam Sint Willebrord, Sint Willebrord, The Netherlands;
  • Towne MC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA;
  • Niemeyer CM; Pediatric Hematology and Oncology Department, Children's Hospital, University of Freiburg, Freiburg, Germany;
  • Watson HG; Department of Haematology, Aberdeen Royal Infirmary, Aberdeen, Scotland;
  • Dziegiel MH; Department of Clinical Immunology, and.
  • Heeney MM; Harvard Medical School, Boston, MA; Department of Pediatrics, Dana-Farber Cancer Institute-Boston Children's Center for Cancer and Blood Disorders, Boston, MA;
  • May A; Department of Haematology, Cardiff University School of Medicine, Heath Park, Cardiff, Wales;
  • Bottomley SS; Department of Medicine, Hematology-Oncology Section, University of Oklahoma College of Medicine, Oklahoma City, OK; and.
  • Swinkels DW; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Markianos K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA;
  • Craig EA; Department of Biochemistry, University of Wisconsin, Madison, WI;
  • Fleming MD; Harvard Medical School, Boston, MA; Department of Pathology, Boston Children's Hospital, Boston, MA;
Blood ; 126(25): 2734-8, 2015 Dec 17.
Article em En | MEDLINE | ID: mdl-26491070
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Choque Térmico HSP70 / Proteínas Mitocondriais / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Limite: Adult / Aged / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Choque Térmico HSP70 / Proteínas Mitocondriais / Doenças Genéticas Ligadas ao Cromossomo X / Anemia Sideroblástica Limite: Adult / Aged / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article