Article
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
Cancer letters - 8 May 2007
Deschênes Suzanne M, Tomer Guy, Nguyen Megan, Erdeniz Naz, Juba Nicole C, Sepúlveda Natalia, Pisani Jenna E, Liskay R Michael
Abstract excerpt
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 signifi...
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