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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...

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Detalles Bibliográficos
Autores principales: Wang, Kai Jie, Li, Sha Sha, Yun, Bo, Ma, Wen Xian, Jiang, Tian Ge, Zhu, Si Quan
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
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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