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Article

Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.

Molecular vision - 27 Nov 2007

Yip Shea Ping, Cheung Tsz Shan, Chu Man Yu, Cheung Suk Chun, Leung Kam Wah, Tsang Kin Ping, Lam Stephen T S, To Chi Ho

Abstract excerpt

PURPOSE: Choroideremia (CHM) is an X-linked retinal degenerative disorder caused by mutations in the CHM gene. The mutations result in malfunction of the Rab escort protein 1 (REP-1). In this study, mutational analysis of the CHM gene was performed on five Chinese families clinically diagnosed with CHM. METHODS: Denaturing high performance liquid chromatography was used for mutation screening for all 15 exons and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18087237

Genes

CHM

Variants

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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