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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...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994330/ https://www.ncbi.nlm.nih.gov/pubmed/21139677 |