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Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus, Stacie K; Gillis, Meredith F; Lundh, Linnea; Baxter, Laura L; Wedel, Julia C; Watkins-Chow, Dawn E; Donovan, Frank X; Sergeev, Yuri V; Oetting, William S; Pavan, William J; Adams, David R.
Afiliação
  • Loftus SK; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: sloftus@mail.nih.gov.
  • Gillis MF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Lundh L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Baxter LL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Wedel JC; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Donovan FX; Cancer Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Oetting WS; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA.
  • Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Adams DR; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: dadams1@mail.nih.gov.
Am J Hum Genet ; 110(7): 1123-1137, 2023 07 06.
Article em En | MEDLINE | ID: mdl-37327787
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Oculocutâneo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Albinismo Oculocutâneo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article