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A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
PURPOSE: Congenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS:...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3107997/ https://www.ncbi.nlm.nih.gov/pubmed/21647270 |