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York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Markello, Thomas; Chen, Dong; Kwan, Justin Y; Horkayne-Szakaly, Iren; Morrison, Alan; Simakova, Olga; Maric, Irina; Lozier, Jay; Cullinane, Andrew R; Kilo, Tatjana; Meister, Lynn; Pakzad, Kourosh; Bone, William; Chainani, Sanjay; Lee, Elizabeth; Links, Amanda; Boerkoel, Cornelius; Fischer, Roxanne; Toro, Camilo; White, James G; Gahl, William A; Gunay-Aygun, Meral.
Afiliación
  • Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Chen D; Division of Hematopathology, Department of Laboratory of Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  • Kwan JY; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • Horkayne-Szakaly I; Joint Pathology Center, Defense Health Agency, Silver Spring, MD 20910, USA.
  • Morrison A; Joint Pathology Center, Defense Health Agency, Silver Spring, MD 20910, USA.
  • Simakova O; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Maric I; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Lozier J; Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Cullinane AR; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Kilo T; Pediatric Hematology, The Children's Hopsital at Westmead, Westmead, NSW 2145, Australia.
  • Meister L; Pediatric Hematology, Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.
  • Pakzad K; Hematopathology, Pathology Consultants of South Broward, Memorial Healthcare System, Hollywood, FL 33021, USA.
  • Bone W; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Chainani S; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Lee E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Links A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Boerkoel C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Fischer R; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • White JG; Department of Laboratory Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
  • Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Gunay-Aygun M; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: mgaygun@mail.nih.gov.
Mol Genet Metab ; 114(3): 474-82, 2015 Mar.
Article en En | MEDLINE | ID: mdl-25577287
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Plaquetas / Canalopatías / Proteínas de la Membrana / Enfermedades Musculares / Proteínas de Neoplasias Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Plaquetas / Canalopatías / Proteínas de la Membrana / Enfermedades Musculares / Proteínas de Neoplasias Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos