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...

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Detalles Bibliográficos
Autores principales: Bianchi, F., Raponi, M., Piva, F., Viel, A., Bearzi, I., Galizia, E., Bracci, R., Belvederesi, L., Loretelli, C., Brugiati, C., Corradini, F., Baralle, D., Cellerino, R.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Article
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

Internet

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

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