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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts

PURPOSE: We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family. METHODS: Family history data were recorded. Clinical and ophthalmolo...

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Detalles Bibliográficos
Autores principales:	Ma, Xu, Li, Fei-Feng, Wang, Shu-Zhen, Gao, Chang, Zhang, Meng, Zhu, Si-Quan
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2573734/ https://www.ncbi.nlm.nih.gov/pubmed/18958306

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