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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts

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

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Detalles Bibliográficos
Autores principales: Li, Feifeng, Wang, Shuzhen, Gao, Chang, Liu, Shiguo, Zhao, Baojian, Zhang, Meng, Huang, Shangzhi, Zhu, Siquan, Ma, Xu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268897/
https://www.ncbi.nlm.nih.gov/pubmed/18334953