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Article

New type of mutations in three spanish families with choroideremia.

Investigative ophthalmology & visual science - 1 Apr 2008

Garcia-Hoyos Maria, Lorda-Sanchez Isabel, Gómez-Garre Pilar, Villaverde Cristina, Cantalapiedra Diego, Bustamante Ana, Diego-Alvarez Dan, Vallespin Elena, Gallego-Merlo Jesus, Trujillo Maria Jose, Ramos Carmen, Ayuso Carmen

Abstract excerpt

PURPOSE: Choroideremia (CHM) is an X-linked ophthalmic disease. The gene associated with CHM (REP-1) encodes a ubiquitously expressed protein that is indispensable for the posttranslational activation of retina-specific Rab protein. Different mutations, including large genomic rearrangements involving the REP-1 gene, are responsible for CHM, but they all cause the protein to be truncated or absent. The authors...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18385043
DOI: 10.1167/iovs.07-1169

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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