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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2
PURPOSE: To identify the causative genetic mutation among the known cataract candidate genes underlying the observed phenotype in a Basotho family, with congenital nuclear cataracts. METHODS: Because of the small family size, we used the functional candidate gene analysis approach. We screened a Bas...
Autores principales: | , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718852/ https://www.ncbi.nlm.nih.gov/pubmed/19649175 |