Abstract
We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.
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Varley, J., McGown, G., Thorncroft, M. et al. A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. Br J Cancer 78, 1081–1083 (1998). https://doi.org/10.1038/bjc.1998.631
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DOI: https://doi.org/10.1038/bjc.1998.631
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