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The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair

The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significan...

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Détails bibliographiques
Auteurs principaux: Deschênes, Suzanne M., Tomer, Guy, Nguyen, Megan, Erdeniz, Naz, Juba, Nicole C., Sepúlveda, Natalia, Pisani, Jenna E., Liskay, R. Michael
Format: Artigo
Langue:Inglês
Publié: 2006
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2366906/
https://ncbi.nlm.nih.gov/pubmed/17029773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.canlet.2006.08.008
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