Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family

PURPOSE: To map the locus and identify the gene causing autosomal dominant congenital cataract (ADCC) with “snail-like” phenotype in a large Chinese family. METHODS: Clinical and ophthalmologic examinations were conducted on family members and documented by slit lamp photography. Linkage analysis wa...

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Detalles Bibliográficos
Autores principales: Jiang, Jin, Jin, Chongfei, Wang, Wei, Tang, Xiajing, Shentu, Xingchao, Wu, Renyi, Wang, Yao, Xia, Kun, Yao, Ke
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615830/
https://www.ncbi.nlm.nih.gov/pubmed/19137077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615830/
https://www.ncbi.nlm.nih.gov/pubmed/19137077

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