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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...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Molecular Vision
2009
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2718852/ https://ncbi.nlm.nih.gov/pubmed/19649175 |
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