MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

MUTYH-associated polyposis (MAP) is an autosomal recessive adenomatous polyposis caused by biallelic germline mutations of the base-excision-repair gene MUTYH. In MAP patients of European origin, the combined allele frequency of the mutations p.Tyr179Cys and p.Gly396Asp ranges between 50 and 82%, wh...

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Main Authors: Aretz, Stefan, Tricarico, Rossella, Papi, Laura, Spier, Isabel, Pin, Elisa, Horpaopan, Sukanya, Cordisco, Emanuela Lucci, Pedroni, Monica, Stienen, Dietlinde, Gentile, Annamaria, Panza, Anna, Piepoli, Ada, de Leon, Maurizio Ponz, Friedl, Waltraut, Viel, Alessandra, Genuardi, Maurizio
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060104/
https://ncbi.nlm.nih.gov/pubmed/23361220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.309
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