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A Novel αB-Crystallin Mutation Associated with Autosomal Dominant Congenital Lamellar Cataract
PURPOSE: To identify the mutation and the underlying mechanism of cataractogenesis in a five-generation autosomal dominant congenital lamellar cataract family. METHODS: Nineteen mutation hot spots associated with autosomal dominant congenital cataract have been screened by PCR-based DNA sequencing....
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2006
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2078606/ https://ncbi.nlm.nih.gov/pubmed/16505043 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.05-1004 |
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