A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
Thorncroft, Mary R
White, Gavin R M
Tricker, K J
Kelsey, Anna M
Birch, Jillian M
Evans, D Gareth R
AffiliationCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
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AbstractWe 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.
CitationA novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 1998, 78 (8):1081-3 Br. J. Cancer
JournalBritish Journal of Cancer
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