Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD

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 befor...

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Detalles Bibliográficos
Autores principales: Tang, Suzhen, Xia, Yujun, Dai, Yunhai, Liu, Yaning, Li, Jingshuo, Pan, Xiaojing, Chen, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982429/
https://www.ncbi.nlm.nih.gov/pubmed/32025184

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