A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
Author:
Funder
National Institute for Medical Research Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-020-01070-6.pdf
Reference27 articles.
1. van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007;91(2):157–64.
2. Huang M, Graves L. De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways. Cell Mol Life Sci. 2003;60(2):321–36.
3. Nakajima Y, Meijer J, Dobritzsch D, Ito T, Zhang C, Wang X, Watanabe Y, Tashiro K, Meinsma R, Roelofsen J, Zoetekouw L, Van K ABP. Dihydropyrimidinase deficiency in four east Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. Mol Genet Metab 2017;122(4):216–222.
4. van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist J-F, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC. Dihydropyrimidinase deficiency: phenotype, genotype and structural consequences in 17 patients. Biochim Biophys Acta. 2010;1802(7–8):639–48.
5. Hishinuma E, Akai F, Narita Y, Maekawa M, Yamaguchi H, Mano N, Oda A, Hirasawa N, Hiratsuka M. Functional characterization of 21 allelic variants of dihydropyrimidinase. Biochem Pharmacol. 2017;143:118–28.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature;Molecular Case Studies;2023-12
2. Dihydropyramidinase Deficiency (DPYSD);Genetic Syndromes;2023
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