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Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant
Changes at the invariable donor splice site + 1 guanine, relatively frequent in human genetic disease, are predicted to abrogate correct splicing, and thus are classified as null mutations. However, their ability to direct residual expression, which might have pathophysiological implications in seve...
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| Hoofdauteurs: | , , , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Elsevier Pub. Co
2012
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3787739/ https://ncbi.nlm.nih.gov/pubmed/22426302 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2012.03.001 |
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