The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome

Germline mutations in the mismatch repair (MMR) genes are associated with Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Here, we characterise a variant of hMLH1 that confers a loss-of-function MMR phenotype. The mutation changes the highly conserved Gly67...

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Autores principales: Clyne, M, Offman, J, Shanley, S, Virgo, J D, Radulovic, M, Wang, Y, Ardern-Jones, A, Eeles, R, Hoffmann, E, Yu, V P C C
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
Materias:
Genetics and Genomics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2634701/
https://ncbi.nlm.nih.gov/pubmed/19142183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.bjc.6604860
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