Article
A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.
Oncogene - 6 Jun 1996
Varley J M, McGown G, Thorncroft M, Cochrane S, Morrison P, Woll P, Kelsey A M, Mitchell E L, Boyle J, Birch J M, Evans D G
Abstract excerpt
We report details of a family with classic Li-Fraumeni syndrome in which there is a mutation in codon 344 of the tumour suppressor gene TP53. Codon 344 is a key residue within the tetramerisation domain, and the amino acid substitution of a proline for a leucine is predicted to have profound implications for tetramerisation and potentially DNA binding. This is the first report of a mutation at this residue in...
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