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...

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Autores principales: Gamundi, María José, Hernan, Imma, Muntanyola, Marta, Trujillo, María José, García-Sandoval, Blanca, Ayuso, Carmen, Baiget, Montserrat, Carballo, Miguel
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2776544/
https://ncbi.nlm.nih.gov/pubmed/17653047
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