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A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
Varley, J M; McGown, G; Thorncroft, M; White, G R; Tricker, K J; Kelsey, A M; Birch, J M; Evans, D G
British journal of cancer. 1998;78(8):1081-3.
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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.