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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שמור ב:
מידע ביבליוגרפי
Main Authors: Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jiao, Xiaodong, Hejtmancik, J. Fielding, Zhang, Qingjiong
פורמט: Artigo
שפה:Inglês
יצא לאור: Molecular Vision 2011
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3247167/
https://ncbi.nlm.nih.gov/pubmed/22219627
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