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A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract. METHODS: Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential...

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Detalles Bibliográficos
Autores principales:	Wang, Han, Zhang, Tianxiao, Wu, Di, Zhang, Jinsong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874047/ https://www.ncbi.nlm.nih.gov/pubmed/24379646

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