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Results: 1-8 |
Results: 8
High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application
Authors: Linnebank, M Homberger, A Junker, R Nowak-Goettl, U Harms, E Koch, HG
Citation: M. Linnebank et al., High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application, THROMB HAEM, 85(6), 2001, pp. 986-988
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
Authors: Rapp, B Haberle, J Linnebank, M Wermuth, B Marquardt, T Harms, E Koch, HG
Citation: B. Rapp et al., Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts, EUR J PED, 160(5), 2001, pp. 283-287
Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene
Authors: Homberger, A Linnebank, M Winter, C Willenbring, H Marquardt, T Harms, E Koch, HG
Citation: A. Homberger et al., Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene, EUR J HUM G, 8(9), 2000, pp. 725-729
Linkage disequilibrium of the common mutations 677C -> T and 1298A -> C ofthe human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C -> T, 1068C -> T
Authors: Linnebank, M Homberger, A Nowak-Gottl, U Marquardt, T Harms, E Koch, HG
Citation: M. Linnebank et al., Linkage disequilibrium of the common mutations 677C -> T and 1298A -> C ofthe human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C -> T, 1068C -> T, EUR J PED, 159(6), 2000, pp. 472-473
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
Authors: Linnebank, M Homberger, A Rapp, B Winter, C Marquardt, T Harms, E Koch, HG
Citation: M. Linnebank et al., Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene, J INH MET D, 23(4), 2000, pp. 308-312
Frequent polymorphism of the human methylenetetrahydrofolate reductase
Authors: Linnebank, M Homberger, A Koch, HG
Citation: M. Linnebank et al., Frequent polymorphism of the human methylenetetrahydrofolate reductase, STROKE, 31(4), 2000, pp. 990-990
Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities
Authors: Korner, C Linnebank, M Koch, HG Harms, E von Figura, K Marquardt, T
Citation: C. Korner et al., Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities, J LEUK BIOL, 66(1), 1999, pp. 95-98
The 677T genotype of the common MTHFR thermolabile variant and fasting homocysteine in childhood venous thrombosis
Authors: Koch, HG Nabel, P Junker, R Auberger, K Schobess, R Homberger, A Linnebank, M Nowak-Gottl, U
Citation: Hg. Koch et al., The 677T genotype of the common MTHFR thermolabile variant and fasting homocysteine in childhood venous thrombosis, EUR J PED, 158, 1999, pp. S113-S116
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