An American Founder Mutation in MLH1

Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some other cancers. After the same splice site mutation in the MLH1 gene (c.589-2A>G) had been observed in 4 ostensibly unrelated American families with typical LS cancers, its oc...

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Detalhes bibliográficos
Main Authors: Tomsic, Jerneja, Liyanarachchi, Sandya, Hampel, Heather, Morak, Monika, Thomas, Brittany C., Raymond, Victoria M., Chittenden, Anu, Schackert, Hans K., Gruber, Stephen B., Syngal, Sapna, Viel, Alessandra, Holinski-Feder, Elke, Thibodeau, Stephen N., de la Chapelle, Albert
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3266960/
https://ncbi.nlm.nih.gov/pubmed/21671475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ijc.26233
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