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Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Human mutation - 1 Oct 2005

Aceto Gitana, Curia Maria Cristina, Veschi Serena, De Lellis Laura, Mammarella Sandra, Catalano Teresa, Stuppia Liborio, Palka Giandomenico, Valanzano Rosa, Tonelli Francesco, Casale Vincenzo, Stigliano Vittoria, Cetta Francesco, Battista Pasquale, Mariani-Costantini Renato, Cama Alessandro

Abstract excerpt

The analysis of APC and MYH mutations in adenomatous polyposis coli patients should provide clues about the genetic heterogeneity of the syndrome in human populations. The entire coding region and intron-exon borders of the APC and MYH genes were analyzed in 60 unrelated Italian adenomatous polyposis coli patients. APC analysis revealed 26 point mutations leading to premature termination, one missense variant and...

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PMID: 16134147
DOI: 10.1002/humu.9370

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APC

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Source receipt: pubmed, retrieved 6 Sept 2026.

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