A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract. METHODS: After obtaining informed consent, detailed ophthalmic examinations were performed and genomic DNAs were obtained from eleven family members in a three-generation Chines...

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Detalles Bibliográficos
Autores principales: Wang, Li, Chen, Xueli, Lu, Yi, Wu, Jihong, Yang, Boqi, Sun, Xinghuai
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081795/
https://www.ncbi.nlm.nih.gov/pubmed/21527994

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