Article
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Molecular vision - 29 Apr 2011
Garcia-Hoyos Maria, Auz-Alexandre Carmen Laura, Almoguera Berta, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Lopez-Martinez Miguel Angel, Gimenez Ascension, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Trujillo-Tiebas Maria Jose, Garcia-Sandoval Blanca, Ramos Carmen, Ayuso Carmen
Abstract excerpt
PURPOSE: Heterozygous mutations around codon 838 of the guanylate cyclase 2D (GUCY2D) gene have recently been associated with more than a third of autosomal dominant macular dystrophy patients. The aim of our study was to evaluate the prevalence of these mutations in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. METHODS: Mutation analysis was performed by PCR amplification of...
Topics
- Codon
- DNA Mutational Analysis
- Genes, Dominant
- Genetic Association Studies
- Guanylate Cyclase
- Humans
- Macular Degeneration
- Mutation, Missense
- Pedigree