Article
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
European journal of human genetics : EJHG - 1 Jul 2014
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
Abstract excerpt
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%, while these mutations have not been identified in Far Eastern Asian populations, supporting the hypothesis that a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.