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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Invest Ophthalmol Vis Sci
Auteurs principaux: Wang, Hui, Wang, Xia, Zou, Xuan, Xu, Shan, Li, Hui, Soens, Zachry Tore, Wang, Keqing, Li, Yumei, Dong, Fangtian, Chen, Rui, Sui, Ruifang
Format: Artigo
Langue:Inglês
Publié: The Association for Research in Vision and Ophthalmology 2015
Sujets:
Genetics
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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires