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Article

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

Journal of medical genetics - 1 Mar 2004

Yang Y, Wang Y, Li S, Xu Z, Li H, Ma L, Fan J, Bu D, Liu B, Fan Z, Wu G, Jin J, Ding B, Zhu X, Shen Y

Abstract excerpt

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations in the two...

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Identifiers

PMID: 14985375
DOI: 10.1136/jmg.2003.012153
PMCID: PMC1735695

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GCA

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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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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.PMID 14985375Read ↗

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