Recurrent and founder mutations in the PMS2 gene

Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detect...

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Autori principali: Tomsic, Jerneja, Senter, Leigha, Liyanarachchi, Sandya, Clendenning, Mark, Vaughn, Cecily P., Jenkins, Mark A., Hopper, John L., Young, Joanne, Samowitz, Wade, de la Chapelle, Albert
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3445698/
https://ncbi.nlm.nih.gov/pubmed/22577899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2012.01898.x
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