Article
A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
Molecular vision - 1 Jan 2011
Xiao Xueshan, Guo Xiangming, Jia Xiaoyun, Li Shiqiang, Wang Panfeng, Zhang Qingjiong
Abstract excerpt
PURPOSE: To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients. METHODS: Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect the mutation in a candidate gene. RESULTS:...
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