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Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype. This disease might be associated with a risk of 5-fluorouracil toxicity, although no cases have been reported. We present here both the molecular character...

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Bibliografiske detaljer
Main Authors: Hamajima, N, Kouwaki, M, Vreken, P, Matsuda, K, Sumi, S, Imaeda, M, Ohba, S, Kidouchi, K, Nonaka, M, Sasaki, M, Tamaki, N, Endo, Y, De Abreu, R, Rotteveel, J, van Kuilenburg, A, van Gennip, A, Togari, H, Wada, Y
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377410/
https://ncbi.nlm.nih.gov/pubmed/9718352
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