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Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome which predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear....

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Autores principales: Kosinski, Jan, Hinrichsen, Inga, Bujnicki, Janusz M., Friedhoff, Peter, Plotz, Guido
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2908215/
https://ncbi.nlm.nih.gov/pubmed/20533529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21301
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