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A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus, Stacie K; Lundh, Linnea; Watkins-Chow, Dawn E; Baxter, Laura L; Pairo-Castineira, Erola; Jackson, Ian J; Oetting, William S; Pavan, William J; Adams, David R.
Afiliação
  • Loftus SK; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Lundh L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Baxter LL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Pairo-Castineira E; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.
  • Nisc Comparative Sequencing Program; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.
  • Jackson IJ; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Oetting WS; Roslin Institute, University of Edinburgh, Easter Bush, Edinburgh, UK.
  • Pavan WJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.
  • Adams DR; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
Hum Mutat ; 42(10): 1239-1253, 2021 10.
Article em En | MEDLINE | ID: mdl-34246199
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Albinismo Oculocutâneo / Estudo de Associação Genômica Ampla Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans 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: Albinismo Oculocutâneo / Estudo de Associação Genômica Ampla Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article