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A mutation in GJA8 (p.P88Q) is associated with “balloon-like” cataract with Y-sutural opacities in a family of Indian origin

PURPOSE: To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract. METHODS: Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, αA-crystallin (CRYAA), βA1-crystallin (CRYBA1),...

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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:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435161/
https://www.ncbi.nlm.nih.gov/pubmed/18587493