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

Background: Mutations in CHRNE, the gene encoding the muscle nicotinic acetylcholine receptor ε 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 fo...

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Bibliografiske detaljer
Main Authors: Ohno, K, Tsujino, A, Shen, X, Milone, M, Engel, A
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2005
Fag:
Online Mutation Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736110/
https://ncbi.nlm.nih.gov/pubmed/16061559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.026682
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