A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy

PURPOSE: To describe the clinical and genetic findings in a Chinese family with autosomal dominant cone dystrophy (adCOD). METHODS: One family was examined clinically, and genomic DNA was extracted from venous blood of all participants. Genotyping and haplotyping analysis was performed on the known...

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Detalles Bibliográficos
Autores principales: Zhao, Xin, Ren, YanFan, Zhang, Xiaohui, Chen, Changxi, Dong, Bing, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668702/
https://www.ncbi.nlm.nih.gov/pubmed/23734073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3668702/
https://www.ncbi.nlm.nih.gov/pubmed/23734073

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