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Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site
Disease-associated silent mutations are considered to affect the accurate pre–messenger RNA (mRNA) splicing either by influencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site. This study describes a new molecular pathological mechanism by which a silent mut...
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| Vydáno v: | Blood |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society of Hematology
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5161009/ https://ncbi.nlm.nih.gov/pubmed/27543438 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-02-699686 |
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