Mutations at codon 974 of the DPYD gene are a rare event.

A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activity who experienced severe toxicity when treated with 5-fluorouracil. We have studied the frequency of this mutation in 29 Scottish subjects with l...

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Autores principales: Ridge, S. A., Brown, O., McMurrough, J., Fernandez-Salguero, P., Evans, W. E., Gonzalez, F. J., McLeod, H. L.
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group|1 1997
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063286/
https://www.ncbi.nlm.nih.gov/pubmed/9010022
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author Ridge, S. A.
Brown, O.
McMurrough, J.
Fernandez-Salguero, P.
Evans, W. E.
Gonzalez, F. J.
McLeod, H. L.
author_facet Ridge, S. A.
Brown, O.
McMurrough, J.
Fernandez-Salguero, P.
Evans, W. E.
Gonzalez, F. J.
McLeod, H. L.
author_sort Ridge, S. A.
collection PubMed
description A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activity who experienced severe toxicity when treated with 5-fluorouracil. We have studied the frequency of this mutation in 29 Scottish subjects with low DPD enzyme activity and in 274 American subjects. We detected no mutations in the 606 alleles studied and conclude that mutations at codon 974 are a rare event. IMAGES:
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spelling pubmed-20632862009-09-10 Mutations at codon 974 of the DPYD gene are a rare event. Ridge, S. A. Brown, O. McMurrough, J. Fernandez-Salguero, P. Evans, W. E. Gonzalez, F. J. McLeod, H. L. Br J Cancer Research Article A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activity who experienced severe toxicity when treated with 5-fluorouracil. We have studied the frequency of this mutation in 29 Scottish subjects with low DPD enzyme activity and in 274 American subjects. We detected no mutations in the 606 alleles studied and conclude that mutations at codon 974 are a rare event. IMAGES: Nature Publishing Group|1 1997 /pmc/articles/PMC2063286/ /pubmed/9010022 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
Ridge, S. A.
Brown, O.
McMurrough, J.
Fernandez-Salguero, P.
Evans, W. E.
Gonzalez, F. J.
McLeod, H. L.
Mutations at codon 974 of the DPYD gene are a rare event.
title Mutations at codon 974 of the DPYD gene are a rare event.
title_full Mutations at codon 974 of the DPYD gene are a rare event.
title_fullStr Mutations at codon 974 of the DPYD gene are a rare event.
title_full_unstemmed Mutations at codon 974 of the DPYD gene are a rare event.
title_short Mutations at codon 974 of the DPYD gene are a rare event.
title_sort mutations at codon 974 of the dpyd gene are a rare event.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2063286/
https://www.ncbi.nlm.nih.gov/pubmed/9010022
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