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Br J Cancer. 1998 Oct;78(8):1081-3.

A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.

Author information

  • 1CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.

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.

PMID:
9792154
[PubMed - indexed for MEDLINE]
PMCID:
PMC2063148
Free PMC Article
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