Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087450/
https://www.ncbi.nlm.nih.gov/pubmed/21552474

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3087450/
https://www.ncbi.nlm.nih.gov/pubmed/21552474

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