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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),...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435161/ https://www.ncbi.nlm.nih.gov/pubmed/18587493 |