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Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family

PURPOSE: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts. METHODS: Clinical data from patients in the family were recorded by slit-lamp photography. Genomic DNA samples were extracted from peripheral...

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Detalles Bibliográficos
Autores principales:	Yao, Ke, Li, Jinyu, Jin, Chongfei, Wang, Wei, Zhu, Yanan, Shentu, Xingchao, Wang, Qiwei
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021577/ https://www.ncbi.nlm.nih.gov/pubmed/21245961

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