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Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
O'Brien, Kevin J; Lozier, Jay; Cullinane, Andrew R; Osorio, Brigitte; Nghiem, Khanh; Speransky, Vladislav; Zein, Wadih M; Mullikin, James C; Neff, Anne T; Simon, Karen L; Malicdan, May Christine V; Gahl, William A; Young, Lisa R; Gochuico, Bernadette R.
Afiliação
  • O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA.
  • Lozier J; Department of Laboratory Medicine, Clinical Center, NIH, 10 Center Drive, Bethesda, MD 20892-1508, USA.
  • Cullinane AR; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; Department of Anatomy, College of Medicine, Howard University, 520 W St., NW, Washington, DC 20059, USA.
  • Osorio B; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA.
  • Nghiem K; Department of Laboratory Medicine, Clinical Center, NIH, 10 Center Drive, Bethesda, MD 20892-1508, USA.
  • Speransky V; National Institute of Biomedical Imaging and Bioengineering, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA.
  • Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, 10 Center Drive, Bethesda, MD 20892-1860, USA.
  • Mullikin JC; NIH Intramural Sequencing Center, NIH, 5625 Fishers Lane, Rockville, MD 20852, USA.
  • Neff AT; Department of Hematology/Medical Oncology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
  • Simon KL; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA.
  • Malicdan MC; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA.
  • Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892-1205, USA; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Di
  • Young LR; Division of Pediatric Allergy, Immunology, and Pulmonary Medicine, Vanderbilt University School of Medicine, 2200 Children's Way, 11215 Doctors' Office Tower, Nashville, TN 37232-9500, USA; Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine,1161 21st
  • Gochuico BR; Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bethesda, MD 20892-1851, USA. Electronic address: gochuicb@mail.nih.gov.
Mol Genet Metab ; 119(3): 284-287, 2016 11.
Article em En | MEDLINE | ID: mdl-27641950
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemofilia B / Albinismo Oculocutâneo / Síndrome de Hermanski-Pudlak / Peptídeos e Proteínas de Sinalização Intracelular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hemofilia B / Albinismo Oculocutâneo / Síndrome de Hermanski-Pudlak / Peptídeos e Proteínas de Sinalização Intracelular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article