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Article

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.

The British journal of ophthalmology - 1 Jul 2012

Al-Rashed May, Abu Safieh Leen, Alkuraya Hisham, Aldahmesh Mohammed A, Alzahrani Jawaher, Diya Mohamed, Hashem Mais, Hardcastle Alison J, Al-Hazzaa Selwa A F, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND/AIM: Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP...

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Identifiers

PMID: 22317909
DOI: 10.1136/bjophthalmol-2011-301134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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