A novel γD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract

PURPOSE: To identify the genetic lesions for congenital coralliform cataract. METHODS: Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screene...

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Detalles Bibliográficos
Autores principales: Zhang, Li-Yun, Gong, Bo, Tong, Jian-Ping, Fan, Dorothy Shu-Ping, Chiang, Sylvia Wai-Yee, Lou, Dinghua, Lam, Dennis Shun-Chiu, Yam, Gary Hin-Fai, Pang, Chi-Pui
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722711/
https://www.ncbi.nlm.nih.gov/pubmed/19668596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722711/
https://www.ncbi.nlm.nih.gov/pubmed/19668596

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