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A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin

PURPOSE: To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA...

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Detalles Bibliográficos
Autores principales:	Vanita, Vanita, Singh, Jai Rup, Singh, Daljit, Varon, Raymonda, Sperling, Karl
Formato:	Texto
Lenguaje:	English
Publicado:	Molecular Vision 2008
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255026/ https://www.ncbi.nlm.nih.gov/pubmed/18334946

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