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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Detalles Bibliográficos
Autores principales: Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jiao, Xiaodong, Hejtmancik, J. Fielding, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3247167/
https://www.ncbi.nlm.nih.gov/pubmed/22219627

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