A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family

PURPOSE: To identify the disease-causing gene in a Chinese family with autosomal dominant congenital cataract. METHODS: Clinical and ophthalmologic examinations were performed on all members of a Chinese family with congenital cataract. Nine genes associated with congenital cataract were screened us...

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Detalles Bibliográficos
Autores principales: Zeng, Lu, Liu, Wenqiang, Feng, Wenguo, Wang, Xing, Dang, Hui, Gao, Luna, Yao, Jing, Zhang, Xianqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834598/
https://www.ncbi.nlm.nih.gov/pubmed/24319327

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