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Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function

Inactivating mutations affecting key mismatch repair (MMR) components lead to microsatellite instability (MSI) and cancer. However, a number of patients with MSI-tumors do not present alterations in classical MMR genes. Here we discovered that specific missense mutations in the MutL homolog MLH2, wh...

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Detalles Bibliográficos
Autores principales: Reyes, Gloria X., Zhao, Boyu, Schmidt, Tobias T., Gries, Kerstin, Kloor, Matthias, Hombauer, Hans
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730388/
https://www.ncbi.nlm.nih.gov/pubmed/33303966
http://dx.doi.org/10.1038/s42003-020-01481-4