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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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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Group
2005
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| Sujets: | |
| Accès en ligne: | 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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