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A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
Many mutations in the skeletal-muscle sodium-channel gene SCN4A have been associated with myotonia and/or periodic paralysis, but so far all of these mutations are located in exons. We found a patient with myotonia caused by a deletion/insertion located in intron 21 of SCN4A, which is an AT-AC type...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4109284/ https://ncbi.nlm.nih.gov/pubmed/21412952 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21501 |
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