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Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
Meinsma R, Fernandez-Salguero P, Van Kuilenburg AB, Van Gennip AH, Gonzalez FJ. Meinsma R, et al. DNA Cell Biol. 1995 Jan;14(1):1-6. doi: 10.1089/dna.1995.14.1. DNA Cell Biol. 1995. PMID: 7832988
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.
Vreken P, Van Kuilenburg AB, Meinsma R, Smit GP, Bakker HD, De Abreu RA, van Gennip AH. Vreken P, et al. J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841. J Inherit Metab Dis. 1996. PMID: 8892022
Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
Vreken P, Van Kuilenburg AB, Meinsma R, van Gennip AH. Vreken P, et al. J Inherit Metab Dis. 1997 Jul;20(3):335-8. doi: 10.1023/a:1005357307122. J Inherit Metab Dis. 1997. PMID: 9266349 No abstract available.
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.
Van Kuilenburg AB, Vreken P, Beex LV, Meinsma R, Van Lenthe H, De Abreu RA, van Gennip AH. Van Kuilenburg AB, et al. Eur J Cancer. 1997 Nov;33(13):2258-64. doi: 10.1016/s0959-8049(97)00261-x. Eur J Cancer. 1997. PMID: 9470816
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.
Van Kuilenburg AB, Vreken P, Beex LV, Meinsma R, Van Lenthe H, De Abreu RA, Van Gennip AH. Van Kuilenburg AB, et al. Adv Exp Med Biol. 1998;431:293-8. doi: 10.1007/978-1-4615-5381-6_58. Adv Exp Med Biol. 1998. PMID: 9598078 No abstract available.
Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli.
Vreken P, van Kuilenburg AB, Meinsma R, Beemer FA, Duran M, van Gennip AH. Vreken P, et al. J Inherit Metab Dis. 1998 Jun;21(3):276-9. doi: 10.1023/a:1005380525218. J Inherit Metab Dis. 1998. PMID: 9686374 No abstract available.
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
Van Kuilenburg AB, Vreken P, Abeling NG, Bakker HD, Meinsma R, Van Lenthe H, De Abreu RA, Smeitink JA, Kayserili H, Apak MY, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer WJ, Beemer FA, Duran M, Niezen-Koning KE, Smit GP, Jakobs C, Smit LM, Van Gennip AH, et al. Van Kuilenburg AB, et al. Hum Genet. 1999 Jan;104(1):1-9. doi: 10.1007/pl00008711. Hum Genet. 1999. PMID: 10071185 Review.
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