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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Berlin Heidelberg
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060985/ https://www.ncbi.nlm.nih.gov/pubmed/29680930 http://dx.doi.org/10.1007/s13353-018-0444-7 |