检索结果 - Rutger Meinsma
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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure 由 André B. P. Kuilenburg, Doreen Dobritzsch, Rutger Meinsma, Janet Haasjes, Hans R. Waterham, Małgorzata J.M. Nowaczyk, George Maropoulos, Guido Hein, Hermann Kalhoff, J M Kirk, Holger BAASKE, Anne Aukett, John A. Duley, K. P. Ward, Ylva Lindqvist, Albert H. Gennip
出版 2002Artigo -
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Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity 由 André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Rutger Meinsma, Veronika Schmid, Doreen Dobritzsch, Raoul C. M. Hennekam, Marcel M.A.M. Mannens, Marion Kiechle, Marie‐Christine Etienne‐Grimaldi, Heinz‐Josef Klümpen, Jan Gerard Maring, Veerle A. Derleyn, Ed Maartense, G. Milano, Raymon Vijzelaar, Eva Groß
出版 2010Artigo -
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Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p1... 由 André B. P. Kuilenburg, Judith Meijer, Adri N. Mul, Raoul C. M. Hennekam, J.M.N. Hoovers, Christine de Die‐Smulders, Christian Weber, Andrea Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio‐Gozalbo
出版 2009Artigo -
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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients 由 André B. P. Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean‐François Benoist, Birgit Assmann, Susanne Schubert‐Bast, Georg F. Hoffmann, Marinus Durán, Maaike C. de Vries, G Kurlemann, François Eyskens, Lawrence Greed, Jörn Oliver Sass, Karl Otfried Schwab, A Sewell, John H. Walter, Andreas Hahn, Lida Zoetekouw, Antònia Ribes, Suzanne Lind, Raoul C. M. Hennekam
出版 2010Artigo
相关主题
Biology
Gene
Genetics
Cancer
Dihydropyrimidine dehydrogenase
Fluorouracil
Mutation
Thymidylate synthase
Cancer research
DPYD
Exon
Genotype
Medicine
Molecular biology
Pharmacogenetics
Allele
Compound heterozygosity
Environmental health
Internal medicine
Loss of heterozygosity
Missense mutation
Mutant
Population
Alternative medicine
Biochemistry
Complementary DNA
Denaturing high performance liquid chromatography
Disease
Enzyme
Febrile neutropenia