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hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
In humans and great apes, CHRNA1 encoding the muscle nicotinic acetylcholine receptor α subunit carries an inframe exon P3A, the inclusion of which yields a nonfunctional α subunit. In muscle, the P3A(−) and P3A(+) transcripts are generated in a 1:1 ratio but the functional significance and regulati...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2008
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2638575/ https://ncbi.nlm.nih.gov/pubmed/18806275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn305 |
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