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Article

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Journal of medical genetics - 1 Jan 1998

Inglehearn C F, Tarttelin E E, Plant C, Peacock R E, al-Maghtheh M, Vithana E, Bird A C, Bhattacharya S S

Abstract excerpt

Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by linkage analysis. Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively. No estimate of frequency has previously been possible for the remaining loci, since these can only be implicated when families are...

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Identifiers

PMID: 9475085
DOI: 10.1136/jmg.35.1.1
PMCID: PMC1051177

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

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A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.PMID 9475085Read ↗

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