Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

BACKGROUND: Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3–10% of cases of autosomal dom...

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Detalles Bibliográficos
Autores principales: Gamundi, María José, Hernan, Imma, Martínez-Gimeno, María, Maseras, Miquel, García-Sandoval, Blanca, Ayuso, Carmen, Antiñolo, Guillermo, Baiget, Montserrat, Carballo, Miguel
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1456953/
https://www.ncbi.nlm.nih.gov/pubmed/16597330
http://dx.doi.org/10.1186/1471-2350-7-35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1456953/
https://www.ncbi.nlm.nih.gov/pubmed/16597330
http://dx.doi.org/10.1186/1471-2350-7-35

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