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hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes
We have recently reported a disease-causing substitution (+5G > C) at the donor site of NF-1 exon 3 that produces its skipping. We have now studied in detail the splicing mechanism involved in analyzing RNA–protein complexes at several 5′ splice sites. Characteristic protein patterns were observe...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2004
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC514374/ https://ncbi.nlm.nih.gov/pubmed/15299088 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkh752 |
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