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

@article{Aceto2005MutationsOA,
  title={Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.},
  author={Gitana Maria Aceto and Maria Cristina Curia and Serena Veschi and Laura De Lellis and Sandra Mammarella and Teresa Catalano and Liborio Stuppia and Giandomenico Palka and Rosa Valanzano and Francesco Tonelli and Vincenzo Casale and Vittoria Stigliano and Francesco Cetta and P. Battista and Renato Mariani-Costantini and Alessandro Cama},
  journal={Human mutation},
  year={2005},
  volume={26 4},
  pages={394}
}
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 one deletion spanning the entire coding region in 32 unrelated patients. Novel… CONTINUE READING