A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

PURPOSE: To identify the genetic defect in a Chinese family with bilateral congenital cataract. METHODS: A three-generation family was recruited in this study. Detailed family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was pe...

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Detalles Bibliográficos
Autores principales: Wang, Kai Jie, Zhu, Si Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339038/
https://www.ncbi.nlm.nih.gov/pubmed/22550389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339038/
https://www.ncbi.nlm.nih.gov/pubmed/22550389

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