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Article

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.

American journal of human genetics - 1 Oct 1996

Al-Maghtheh M, Vithana E, Tarttelin E, Jay M, Evans K, Moore T, Bhattacharya S, Inglehearn C F

Abstract excerpt

Retinitis pigmentosa (RP) is the name given to a heterogeneous group of retinal degenerations mapping to at least 16 loci. The autosomal dominant form (ARP), accounting for approximately 25% of cases, can be caused by mutations in two genes, rhodopsin and peripherin/RDS, and by at least six other loci identified by linkage analysis. The RP11 locus for adRP has previously been mapped to chromosome 19q13.4 in a...

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Identifiers

PMID: 8808602
PMCID: PMC1914817

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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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Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.PMID 8808602Read ↗

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

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.Semantic proximity Read ↗

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

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Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.Semantic proximity Read ↗

Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family.Semantic proximity Read ↗

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.Semantic proximity Read ↗

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).Semantic proximity Read ↗

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Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.Semantic proximity Read ↗

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