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An intronic mutation in MLH1 associated with familial colon and breast cancer
Single base substitutions can lead to missense mutations, silent mutations or intronic mutations, whose significance is uncertain. Aberrant splicing can occur due to mutations that disrupt or create canonical splice sites or splicing regulatory sequences. The assessment of their pathogenic role may...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036834/ https://www.ncbi.nlm.nih.gov/pubmed/20717847 http://dx.doi.org/10.1007/s10689-010-9371-4 |