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A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
PURPOSE: To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. METHODS: A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reporte...
Autores principales: | Wang, Kai Jie, Li, Sha Sha, Yun, Bo, Ma, Wen Xian, Jiang, Tian Ge, Zhu, Si Quan |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021572/ https://www.ncbi.nlm.nih.gov/pubmed/21245956 |
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