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Article

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Journal of medical genetics - 1 Aug 2005

Ohno K, Tsujino A, Shen X-M, Milone M, Engel A G

Abstract excerpt

BACKGROUND: Mutations in CHRNE, the gene encoding the muscle nicotinic acetylcholine receptor epsilon subunit, cause congenital myasthenic syndromes. Only three of the eight intronic splice site mutations of CHRNE reported to date have had their splicing consequences characterised. METHODS: We analysed four previously reported and five novel splicing mutations in CHRNE by introducing the entire normal and mutant...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16061559
DOI: 10.1136/jmg.2004.026682
PMCID: PMC1736110

Genes

CHRNE

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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