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NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of intron 17 splicing out exon 17, with mRNA levels severely...
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| 出版年: | Ann Clin Transl Neurol |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6856619/ https://ncbi.nlm.nih.gov/pubmed/31612648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50910 |
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