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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255026/
https://www.ncbi.nlm.nih.gov/pubmed/18334946

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