A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family

PURPOSE: To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts. METHODS: A detailed family history and clinical data were recorded. Mutation screening was performed in the nuclear cataract-related gene by bidirectional sequencing of the amplified pr...

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Detalles Bibliográficos
Autores principales: Wang, Wei, Jiang, Jin, Zhu, Yanan, Li, Jinyu, Jin, Chongfei, Shentu, Xingchao, Yao, Ke
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846850/
https://www.ncbi.nlm.nih.gov/pubmed/20361015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846850/
https://www.ncbi.nlm.nih.gov/pubmed/20361015

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