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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
Norman, Chelsea S; O'Gorman, Luke; Gibson, Jane; Pengelly, Reuben J; Baralle, Diana; Ratnayaka, J Arjuna; Griffiths, Helen; Rose-Zerilli, Matthew; Ranger, Megan; Bunyan, David; Lee, Helena; Page, Rhiannon; Newall, Tutte; Shawkat, Fatima; Mattocks, Christopher; Ward, Daniel; Ennis, Sarah; Self, Jay E.
Afiliação
  • Norman CS; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • O'Gorman L; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Gibson J; Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton, UK.
  • Pengelly RJ; Human Genetics & Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Ratnayaka JA; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Griffiths H; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Rose-Zerilli M; Cancer Sciences Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Ranger M; Eye Unit, University Hospital Southampton, Southampton, UK.
  • Bunyan D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Lee H; Molecular Genetics Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Page R; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Newall T; Eye Unit, University Hospital Southampton, Southampton, UK.
  • Shawkat F; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Mattocks C; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Ward D; Eye Unit, University Hospital Southampton, Southampton, UK.
  • Ennis S; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Self JE; Wessex Investigational Science Hub, University Hospital Southampton, Southampton, UK.
Sci Rep ; 7(1): 4415, 2017 06 30.
Article em En | MEDLINE | ID: mdl-28667292
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Albinismo Ocular / Albinismo Oculocutâneo / Monofenol Mono-Oxigenase / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Genótipo Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Albinismo Ocular / Albinismo Oculocutâneo / Monofenol Mono-Oxigenase / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Genótipo Idioma: En Ano de publicação: 2017 Tipo de documento: Article