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Article

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

BMC medical genetics - 5 Apr 2006

Gamundi María José, Hernan Imma, Martínez-Gimeno María, Maseras Miquel, García-Sandoval Blanca, Ayuso Carmen, Antiñolo Guillermo, Baiget Montserrat, Carballo Miguel

Abstract excerpt

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 dominant RP (adRP). Most of these mutations are clustered in a 500 bp region of exon 4 of RP1. METHODS: Denaturing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16597330
DOI: 10.1186/1471-2350-7-35
PMCID: PMC1456953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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