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Article

Cloning and characterization of the human choroideremia gene

1 Jan 1994

Abstract excerpt

Positional cloning has previously resulted in the identification of a gene which is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified in 4 exons of the 3' portion but not elsewhere in the CHM gene. We have now isolated and characterized the complete open reading frame of the CHM gene and determined its exon-intron structure. The CHM gene...

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Identifiers

PMID: 7981670
DOI: 10.1093/hmg/3.7.1041

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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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Cloning and characterization of the human choroideremia genePMID 7981670Read ↗

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