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A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Pattnaik, Bikash R; Shahi, Pawan K; Marino, Meghan J; Liu, Xinying; York, Nathaniel; Brar, Simran; Chiang, John; Pillers, De-Ann M; Traboulsi, Elias I.
Afiliación
  • Pattnaik BR; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
  • Shahi PK; Department of Ophthalmology and Visual Sciences, University of Wisconsin, Madison, Wisconsin.
  • Marino MJ; McPherson Eye Research Institute, University of Wisconsin, Madison, Wisconsin.
  • Liu X; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
  • York N; Center for Genetic Eye Diseases and Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio.
  • Brar S; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
  • Chiang J; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
  • Pillers DA; Department of Pediatrics, University of Wisconsin, Madison, Wisconsin.
  • Traboulsi EI; Casey Molecular Diagnostic Laboratory, Oregon Health & Science University, Portland, Oregon.
Hum Mutat ; 36(7): 720-7, 2015 Jul.
Article en En | MEDLINE | ID: mdl-25921210
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Canales de Potasio de Rectificación Interna / Oftalmopatías / Amaurosis Congénita de Leber Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Child / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Codón sin Sentido / Canales de Potasio de Rectificación Interna / Oftalmopatías / Amaurosis Congénita de Leber Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Child / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article