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Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts

PURPOSE: We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail. METHODS: Clinical and ophthalmologic examinations were conducted on family member...

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Autori principali: Li, Fei-feng, Zhu, Si-quan, Wang, Shu-zhen, Gao, Chang, Huang, Shang-zhi, Zhang, Meng, Ma, Xu
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2335123/
https://ncbi.nlm.nih.gov/pubmed/18449377
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