Cargando…
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
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 i...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group|1
1998
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063148/ https://www.ncbi.nlm.nih.gov/pubmed/9792154 |