A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family

PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHOD...

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Bibliographic Details
Main Authors: Yang, Guoxing, Zhai, Xinling, Zhao, Jialiang
Format: Artigo
Language:Inglês
Published: Molecular Vision 2011
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115749/
https://ncbi.nlm.nih.gov/pubmed/21686330
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