A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family

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...

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Detalles Bibliográficos
Autores principales: Xiao, Xueshan, Guo, Xiangming, Jia, Xiaoyun, Li, Shiqiang, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244478/
https://www.ncbi.nlm.nih.gov/pubmed/22194653

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244478/
https://www.ncbi.nlm.nih.gov/pubmed/22194653

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