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Article

Genetic analysis of choroideremia families in the Australian population.

Clinical & experimental ophthalmology - 1 Nov 2015

McLaren Terri L, De Roach John N, Montgomery Hannah, Hoffmann Ling, Kap Caitlyn, Lamey Tina M

Abstract excerpt

BACKGROUND: Choroideremia is an X-linked inherited chorioretinal disease known to be caused by mutations in the CHM gene. In this study, Australian families clinically diagnosed with choroideremia were genetically analysed for mutations in the CHM gene. DESIGN: The Australian Inherited Retinal Disease Register and DNA Bank (AIRDR) was investigated to identify a cohort of choroideremia-affected families for...

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Identifiers

PMID: 25912515
DOI: 10.1111/ceo.12542

Genes

CHM

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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