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An intronic element contributes to splicing repression in spinal muscular atrophy
The neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (SMN1) gene. SMN2 is a nearly identical copy of SMN1 that is unable to prevent disease, because most SMN2 transcripts lack exon 7 and thus produce a nonfunctional protein. A key cause of ineffi...
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| 主要な著者: | , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1805620/ https://ncbi.nlm.nih.gov/pubmed/17307868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0700343104 |
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