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Article

Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2007

Mura Marco, Sereda Christina, Jablonski Monica M, MacDonald Ian M, Iannaccone Alessandro

Abstract excerpt

OBJECTIVE: To report the clinical, functional, and in vivo microanatomic characteristics of a family with choroideremia with a deletion of the entire gene that encodes for the Rab escort protein 1 (CHM). METHODS: We performed clinical examination, flash electroretinography (ERG), light- and dark-adapted perimetry, and optical coherence tomography; reviewed medical records; and obtained the medical history of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17698759
DOI: 10.1001/archopht.125.8.1107

Genes

ERG
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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