Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death

@article{Varesco1994MutationIA,
  title={Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death},
  author={Liliana Varesco and Viviana Gismondi and Silvano Presciuttini and Joanna Groden and Lisa N. Spirio and Paola R. Sala and Carlo Rossetti and Luana Benedetti and A. Bafico and Abdelhamid Heouaine and Paola Grammatico and Giuseppe Del Porto and Ray White and Lucio Bertario and Gian Battista Ferrara},
  journal={Human Genetics},
  year={1994},
  volume={93},
  pages={281-286}
}
Adenomatous polyposis coli (APC) is an autosomal dominant disease characterized by the development of hundreds of colorectal adenomatous polyps during the first decades of life. The expression of the disease varies, as the age of onset of colonic cancer and the severity of extracolonic manifestations often differ between affected families. An attenuated form of APC has also been described in which a small number of polyps and a later age of onset of colonic cancer is observed. Cloning of the… CONTINUE READING