@article{strauss_hosler_herzog_salhany_louie_felix_1995, 
  title={Complex replication error causes p53 mutation in a Li-Fraumeni family}, 
  volume={55}, 
  abstractNote={We demonstrated a germline p53 replication error in two generations of a Li-Fraumeni family affected with liposarcoma, adrenocortical carcinoma, and osteosarcoma. The trinucleotide repeat mutation changed 5'-AGT GTG GTG GTG-3' at codons 215-218 to 5'-AGT TGG TTG GTG GTG-3'. The predicted protein would be elongated by one amino acid (val216-->trp leu) without a change in charge. Detection of p53 in the adrenal tumor by immunostaining suggested that the mutant protein was expressed. Persistence of the mutation in the germline may suggest a defect in DNA repair in the family member first affected. This is the first report where germline transmission of replication-damaged p53 trinucleotide repeats is associated with the Li-Fraumeni syndrome.}, 
  number={15}, 
  author={Strauss, E A and Hosler, M R and Herzog, P and Salhany, K and Louie, R and Felix, C A}, 
  year={1995}, 
  month={Aug}
  }