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Article

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.

American journal of medical genetics. Part A - 1 Oct 2009

Perez-Cano Hector J, Garnica-Hayashi Rosa E, Zenteno Juan C

Abstract excerpt

Choroideremia is an X-linked recessive retinal dystrophy characterized by progressive loss of the photoreceptor, the retinal pigment epithelium, and the choriocapillaris layers which ultimately can result in blindness by the fifth decade of life. The disease is caused by mutations in the gene CHM...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19764077
DOI: 10.1002/ajmg.a.32727

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19764077-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.Semantic proximity Read ↗

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