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Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort
PURPOSE. Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in the Chinese population, we performed a mutation screen in 145 Chinese LCA families. METHODS. First, we performed direct Sanger sequencing o...
Enregistré dans:
| Publié dans: | Invest Ophthalmol Vis Sci |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The Association for Research in Vision and Ophthalmology
2015
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4466882/ https://ncbi.nlm.nih.gov/pubmed/26047050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15972 |
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