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Splicing mutations in human genetic disorders: examples, detection, and confirmation
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron...
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| Pubblicato in: | J Appl Genet |
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| Autori principali: | , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060985/ https://ncbi.nlm.nih.gov/pubmed/29680930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-018-0444-7 |
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