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Items for "mutation"
Hypertrophic Cardiomyopathy Molecular Genetic Analysis of Exons 9 and 11 of the TNNT2 Gene in Czech Patients
Objectives: Our research is a pilot study that specializes in the molecular genetic investigation of the TNNT2 gene in Czech patients with HCM/FHC disease...
Keywords: Cardiomyopathy, hypertrophic, familial, TNNT2 gene, mutation
01/2006 | Methods of Information in Medicine, SchattauerMutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach
Factor XIII deficiency is a rare autosomal (1:2,000,000) recessive disorder of blood coagulation usually attributed to mutations in the coagulation factor XIII (FXIII) A gene...
Keywords: factor XIII, mutation, CSGE
03/2006 | Thrombosis and Haemostasis, SchattauerA common origin of the 4143insA ADAMTS13 mutation
Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, is associated with thrombotic thrombocytopenic purpura (TTP)...
Keywords: ADAMTS13, TTP, VWF, mutation
07/2006 | Thrombosis and Haemostasis, SchattauerType 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide
Type 2N von Willebrand disease (VWD) is characterized by a markedly decreased affinity of von Willebrand factor (VWF) for factorVIII (FVIII) and is caused by mutations in the D or D3 domain of mature VWF...
Keywords: von Willebrand factor, von Willebrand disease, mutation, cleavage site
09/2006 | Thrombosis and Haemostasis, SchattauerAnalysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly
Two families with factor X(FX)-Riyadh have been identified (one of them related to the originally reported family)...
Keywords: Prothrombin time,partial thromboplastin time,factor X-Riyadh, exon 4, mutation
04/2007 | Thrombosis and Haemostasis, SchattauerHigh-throughput scanning of breast tumor surgical specimens for low-level mutations
Large numbers of mutations are postulated to occur as early events in carcinogenesis...
Keywords: breast cancer, mutation, single nucleotide instability
08/2005 | Clinical Chemical Laboratory Medicine, Walter de GruyterReference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation
The Scientific Committee of Molecular Biology Techniques (C-MBT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs) for the analysis of the human prothrombin gene G20210A mutation...
Keywords: metrological traceability, molecular diagnostic testing, mutation, polymerase chain reaction, prothrombin, recombinant DNA, reference standards
08/2005 | Clinical Chemical Laboratory Medicine, Walter de GruyterMethylenetetrahydrofolate reductase gene A222V polymorphism and risk of ischemic stroke
The 5,10-methylenetetrahydrofolate reductase (
Keywords: elderly, folate, methylenetetrahydrofolate reductase (MTHFR), mutation, Polymorphism, Stroke
12/2004 | Clinical Chemical Laboratory Medicine, Walter de GruyterEvaluation of a shorter methionine loading test
We validated whether a shorter methionine loading test is as accurate as the original 6-h test in identifying hyperhomocysteinemic patients and investigated determinants of fasting and post-load homocysteine concentration...
Keywords: homocysteine, methionine loading test, methylenetetrahydrofolate reductase (MTHFR), mutation
09/2004 | Clinical Chemical Laboratory Medicine, Walter de GruyterHereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe
Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases...
Keywords: angiotensin-converting enzyme (ACE), dominant gene, mutation
09/2006 | Clinical Chemical Laboratory Medicine, Walter de GruyterNovel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis
Keywords: adenosine 5?-diphosphate (ADP) receptor, bleeding, mutation, P2Y12, Platelet, thrombus
02/2007 | Clinical Chemical Laboratory Medicine, Walter de GruyterBiochemical and molecular investigation of two Korean patients with glycogen storage disease type III
Keywords: AGL gene, amylo-1,6-glucosidase,4-?-glucanotransferase (AGL), glycogen storage disease type III, Korean, mutation
09/2008 | Clinical Chemical Laboratory Medicine, Walter de GruyterAPOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels
Keywords: apolipoprotein A5, mutation, triglycerides
06/2008 | Clinical Chemical Laboratory Medicine, Walter de GruyterIsobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening
Isobutyryl-CoA dehydrogenase (IBD) is an enzyme involved in the catabolism of the branched-chain amino acid valine...
Keywords: ACAD8 gene, isobutyryl-CoA dehydrogenase, Korea, mutation
11/2007 | Clinical Chemical Laboratory Medicine, Walter de Gruyter