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Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations
PURPOSE: To identify the causative gene for autosomal recessive Leber congenital amaurosis (LCA) in a Chinese family. METHODS: One Chinese LCA family was identified and an ophthalmologic examination was performed. The genetic defects were analyzed simultaneously by a genome-wide linkage scan with 38...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Molecular Vision
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3247167/ https://ncbi.nlm.nih.gov/pubmed/22219627 |
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