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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Detalles Bibliográficos
Autores principales: Li, Fei-feng, Zhu, Si-quan, Wang, Shu-zhen, Gao, Chang, Huang, Shang-zhi, Zhang, Meng, Ma, Xu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2335123/
https://www.ncbi.nlm.nih.gov/pubmed/18449377

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2335123/
https://www.ncbi.nlm.nih.gov/pubmed/18449377

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