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A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Sullivan, Lori S; Koboldt, Daniel C; Bowne, Sara J; Lang, Steven; Blanton, Susan H; Cadena, Elizabeth; Avery, Cheryl E; Lewis, Richard A; Webb-Jones, Kaylie; Wheaton, Dianna H; Birch, David G; Coussa, Razck; Ren, Huanan; Lopez, Irma; Chakarova, Christina; Koenekoop, Robert K; Garcia, Charles A; Fulton, Robert S; Wilson, Richard K; Weinstock, George M; Daiger, Stephen P.
Afiliação
  • Sullivan LS; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States.
  • Koboldt DC; The Genome Institute at Washington University, St. Louis, Missouri, United States.
  • Bowne SJ; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States.
  • Lang S; John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States.
  • Blanton SH; John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States.
  • Cadena E; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States.
  • Avery CE; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States.
  • Lewis RA; Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States.
  • Webb-Jones K; The Retina Foundation of the Southwest, Dallas, Texas, United States.
  • Wheaton DH; The Retina Foundation of the Southwest, Dallas, Texas, United States.
  • Birch DG; The Retina Foundation of the Southwest, Dallas, Texas, United States.
  • Coussa R; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada.
  • Ren H; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada.
  • Lopez I; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada.
  • Chakarova C; Institute of Ophthalmology, University College London, London, United Kingdom.
  • Koenekoop RK; McGill Ocular Genetics Laboratory, Departments of Paediatric Surgery, Human Genetics, and Ophthalmology, McGill University Health Center, Montreal, Quebec, Canada.
  • Garcia CA; Department of Ophthalmology and Visual Sciences, University of Texas Health Science Center, Houston, Texas, United States.
  • Fulton RS; The Genome Institute at Washington University, St. Louis, Missouri, United States.
  • Wilson RK; The Genome Institute at Washington University, St. Louis, Missouri, United States.
  • Weinstock GM; The Genome Institute at Washington University, St. Louis, Missouri, United States.
  • Daiger SP; Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States Department of Ophthalmology and Visual Sciences, University of Texas Health Science Center, Houston, Texas, United States.
Invest Ophthalmol Vis Sci ; 55(11): 7147-58, 2014 Sep 04.
Article em En | MEDLINE | ID: mdl-25190649
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / DNA / Retinose Pigmentar / Hexoquinase / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / DNA / Retinose Pigmentar / Hexoquinase / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2014 Tipo de documento: Article