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Article

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.

The British journal of ophthalmology - 1 Mar 2002

Dietrich K, Jacobi F K, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E

Abstract excerpt

BACKGROUND: Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene. METHOD: Index patients from 15...

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Source

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Identifiers

PMID: 11864893
DOI: 10.1136/bjo.86.3.328
PMCID: PMC1771063

Genes

RHO
NRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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