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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Main Authors: Ma, Xu, Li, Fei-Feng, Wang, Shu-Zhen, Gao, Chang, Zhang, Meng, Zhu, Si-Quan
Formato: Artigo
Idioma:Inglês
Publicado: Molecular Vision 2008
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2573734/
https://ncbi.nlm.nih.gov/pubmed/18958306
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