Article
Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
Molecular vision - 1 Jan 2019
Tang Suzhen, Xia Yujun, Dai Yunhai, Liu Yaning, Li Jingshuo, Pan Xiaojing, Chen Peng
Abstract excerpt
Purpose: To elucidate the clinical phenotypes and pathogenesis of a novel missense mutation in guanylate cyclase activator A1A (GUCA1A) associated with autosomal dominant cone dystrophy (adCOD). Methods: The members of a family with adCOD were clinically evaluated. Relevant genes were captured before being sequenced with targeted next-generation sequencing and confirmed with Sanger sequencing. Sequence analysis...
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