Chargement en cours...
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...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , |
|---|---|
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2006
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1456953/ https://ncbi.nlm.nih.gov/pubmed/16597330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-35 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|