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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Detalles Bibliográficos
Autores principales: Yang, Guoxing, Zhai, Xinling, Zhao, Jialiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115749/
https://www.ncbi.nlm.nih.gov/pubmed/21686330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115749/
https://www.ncbi.nlm.nih.gov/pubmed/21686330

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