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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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| Autores principales: | , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2006
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| Materias: | |
| Acceso en línea: | 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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