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