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Article

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

Cold Spring Harbor perspectives in medicine - 10 Oct 2014

Daiger Stephen P, Bowne Sara J, Sullivan Lori S

Abstract excerpt

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable...

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Identifiers

PMID: 25304133
DOI: 10.1101/cshperspect.a017129
PMCID: PMC4588133

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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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