A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus

PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis a...

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Detalles Bibliográficos
Autores principales: Rao, Yan, Dong, Sufang, Li, Zuhua, Yang, Guohua, Peng, Chunyan, Yan, Ming, Zheng, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595272/
https://www.ncbi.nlm.nih.gov/pubmed/28928627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595272/
https://www.ncbi.nlm.nih.gov/pubmed/28928627

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