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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Lichtenstein, Daniel A; Crispin, Andrew W; Sendamarai, Anoop K; Campagna, Dean R; Schmitz-Abe, Klaus; Sousa, Cristovao M; Kafina, Martin D; Schmidt, Paul J; Niemeyer, Charlotte M; Porter, John; May, Alison; Patnaik, Mrinal M; Heeney, Matthew M; Kimmelman, Alec; Bottomley, Sylvia S; Paw, Barry H; Markianos, Kyriacos; Fleming, Mark D.
Afiliación
  • Lichtenstein DA; Department of Pathology and.
  • Crispin AW; Department of Pathology and.
  • Sendamarai AK; Department of Pathology and.
  • Campagna DR; Department of Pathology and.
  • Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Sousa CM; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA.
  • Kafina MD; Division of Hematology, Brigham and Women's Hospital and Boston Children's Hospital, Boston, MA.
  • Schmidt PJ; Department of Pathology and.
  • Niemeyer CM; Department for Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Porter J; Division of Haematology, King's College, London, United Kingdom.
  • May A; Department of Haematology, Cardiff University School of Medicine, Cardiff, United Kingdom.
  • Patnaik MM; Division of Hematology-Oncology, Mayo Clinic, Rochester, MN.
  • Heeney MM; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA.
  • Kimmelman A; Department of Radiation Oncology, Dana-Farber Cancer Institute, Boston, MA; Department of Radiation Oncology, New York University Langone Cancer Center, New York, NY; and.
  • Bottomley SS; University of Oklahoma College of Medicine, Oklahoma City, OK.
  • Paw BH; Division of Hematology, Brigham and Women's Hospital and Boston Children's Hospital, Boston, MA.
  • Markianos K; Department of Pathology and.
  • Fleming MD; Department of Pathology and.
Blood ; 128(15): 1913-1917, 2016 10 13.
Article en En | MEDLINE | ID: mdl-27488349
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuencia de Bases / Eliminación de Secuencia / Cromosomas Humanos X / Enfermedades Genéticas Ligadas al Cromosoma X / Complejo I de Transporte de Electrón / Anemia Sideroblástica Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Secuencia de Bases / Eliminación de Secuencia / Cromosomas Humanos X / Enfermedades Genéticas Ligadas al Cromosoma X / Complejo I de Transporte de Electrón / Anemia Sideroblástica Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos