Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3′ untranslated region

PURPOSE: To investigate the consequence of a major intrinsic protein MIP splice-site mutation (c.607–1G>A) in a four-generation Chinese pedigree afflicted with autosomal dominant congenital cataracts (ADCC). METHODS: Both a mutated minigene with c.607–1G>A, and a wild-type minigene were constr...

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Detalles Bibliográficos
Autores principales: Jin, Chongfei, Jiang, Jin, Wang, Wei, Yao, Ke
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994330/
https://www.ncbi.nlm.nih.gov/pubmed/21139677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994330/
https://www.ncbi.nlm.nih.gov/pubmed/21139677

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