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...

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Autores principales: Varley, J. M., McGown, G., Thorncroft, M., White, G. R., Tricker, K. J., Kelsey, A. M., Birch, J. M., Evans, D. G.
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group|1 1998
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063148/
https://www.ncbi.nlm.nih.gov/pubmed/9792154
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author Varley, J. M.
McGown, G.
Thorncroft, M.
White, G. R.
Tricker, K. J.
Kelsey, A. M.
Birch, J. M.
Evans, D. G.
author_facet Varley, J. M.
McGown, G.
Thorncroft, M.
White, G. R.
Tricker, K. J.
Kelsey, A. M.
Birch, J. M.
Evans, D. G.
author_sort Varley, J. M.
collection PubMed
description 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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spelling pubmed-20631482009-09-10 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. Br J Cancer Research Article 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. Nature Publishing Group|1 1998-10 /pmc/articles/PMC2063148/ /pubmed/9792154 Text en https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Research Article
Varley, J. M.
McGown, G.
Thorncroft, M.
White, G. R.
Tricker, K. J.
Kelsey, A. M.
Birch, J. M.
Evans, D. G.
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title_full A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title_fullStr A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title_full_unstemmed A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title_short A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
title_sort novel tp53 splicing mutation in a li-fraumeni syndrome family: a patient with wilms' tumour is not a mutation carrier.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063148/
https://www.ncbi.nlm.nih.gov/pubmed/9792154
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