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Article

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Proceedings of the National Academy of Sciences of the United States of America - 27 Apr 2004

Rebello George, Ramesar Rajkumar, Vorster Alvera, Roberts Lisa, Ehrenreich Liezle, Oppon Ekow, Gama Dumisani, Bardien Soraya, Greenberg Jacquie, Bonapace Giuseppe, Waheed Abdul, Shah Gul N, Sly William S

Abstract excerpt

Genetic and physical mapping of the RP17 locus on 17q identified a 3.6-megabase candidate region that includes the gene encoding carbonic anhydrase IV (CA4), a glycosylphosphatidylinositol-anchored protein that is highly expressed in the choriocapillaris of the human eye. By sequencing candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15090652
DOI: 10.1073/pnas.0401529101
PMCID: PMC404094

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15090652-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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