Cargando…
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
PURPOSE: Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominan...
Autores principales: | Gamundi, María José, Hernan, Imma, Muntanyola, Marta, Trujillo, María José, García-Sandoval, Blanca, Ayuso, Carmen, Baiget, Montserrat, Carballo, Miguel |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2007
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776544/ https://www.ncbi.nlm.nih.gov/pubmed/17653047 |
Ejemplares similares
-
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
por: Gamundi, María José, et al.
Publicado: (2006) -
Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization
por: Lewis, Tylor R., et al.
Publicado: (2020) -
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing
por: Dias, Miguel de Sousa, et al.
Publicado: (2013) -
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies
por: Garcia-Hoyos, Maria, et al.
Publicado: (2011) -
Genotyping microarray: Mutation screening in Spanish families with autosomal dominant retinitis pigmentosa
por: Blanco-Kelly, Fiona, et al.
Publicado: (2012)