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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021577/
https://www.ncbi.nlm.nih.gov/pubmed/21245961

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