Article
Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease.
Molecular vision - 1 Jan 2016
Zhang Jianping, Qi Anhui, Wang Xi, Pan Hong, Mo Haiming, Huang Jiwei, Li Honghui, Chen Zhenwen, Wei Meirong, Wang Binbin
Abstract excerpt
PURPOSE: Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the pathogenic mutations in affected members in a Chinese STGD pedigree. METHODS: One patient was selected for whole-exome...
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