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A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.
Rao, Yan; Dong, Sufang; Li, Zuhua; Yang, Guohua; Peng, Chunyan; Yan, Ming; Zheng, Fang.
Afiliación
  • Rao Y; Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, China.
  • Dong S; Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, China.
  • Li Z; Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, China.
  • Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
  • Peng C; Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, China.
  • Yan M; Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan, China.
  • Zheng F; Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, China.
Mol Vis ; 23: 624-637, 2017.
Article en En | MEDLINE | ID: mdl-28928627
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Catarata / Nistagmo Patológico / Codón sin Sentido / Cadena B de beta-Cristalina Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: China
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Catarata / Nistagmo Patológico / Codón sin Sentido / Cadena B de beta-Cristalina Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child, preschool / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: China