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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5′ splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutan...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4168831/ https://ncbi.nlm.nih.gov/pubmed/24890387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu271 |
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