A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea

PURPOSE: To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. METHODS: We investigated a four-generation Chinese family with six members affected with nuclear cataracts and microcornea. The family...

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Detalles Bibliográficos
Autores principales: Zhang, Lu, Fu, Songbin, Ou, Yangshan, Zhao, Tingting, Su, Yunjuan, Liu, Ping
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635849/
https://www.ncbi.nlm.nih.gov/pubmed/19204787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635849/
https://www.ncbi.nlm.nih.gov/pubmed/19204787

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