Two cases ofMTHFRC677T polymorphism typing failure by Taqman system due toMTHFR679 GA heterozygous mutationdoi:10.1515/cclm-2024-0245MTHFRpolymorphismmutationTaqman probeGuanglu CheDepartment of Laboratory Medicine, West China Second University Hospital, Key Laboratory of Birth Defects and Related Diseases...
Thrombophilia testing revealed compound heterozygous MTHFR (C677T and A1298C) variants. We searched the literature for myocardial infarction in the setting of MTHFR polymorphisms and the possible pathophysiologic mechanisms. In young patients presenting with a thrombotic event, screening for thrombophilia ...
Significance of factor V, prothrombin, MTHFR, and PAI-1 genotypes in childhood cerebral thrombosis. The aim of this study was to evaluate the significance of factor V (FV) G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, and... Ozyurek,Balta,Degerliyurt,......
A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. OutcomeGeneral precautions to avoid injuries and spontaneous bleeding were advised. MessageLife-threatening bleeding may not be the first finding in ...
MP Hermans,JL Gala,M Buysschaert.The MTHFR CT polymorphism confers a high risk for stroke in both homozygous and heterozygous T allele carriers with Type 2 diabetes. Diabet. Med . 2006The MTHFR C677T polymorphism confers a high risk for stroke in both homozygous and heterozygous T allele ...
Acquired Thrombotic Thrombocytopenic Purpura (TTP) in a patient with heterozygous MTHFR C677T mutation and hyperhomocysteinemia – a case reportAcquired Thrombotic Thrombocytopenic PurpuraMTHFR C677T mutationdoi:10.1016/j.achaem.2015.07.112elsevier
Genetic analysis revealed that he was heterozygous for the prothrombin Factor V (FV) Leiden and MTHFR C677T mutations. Therapy started with intravenous heparin, followed by warfarin. He had no other episodes over a 2-year follow-up. Lifelong oral anticoagulant therapy was recommended. 展开 ...
The MTHFR CT polymor- phism confers a high risk for stroke in both homozygous and het- erozygous T allele carriers with Type 2 diabetes. Diabet Med 2006; 23: 529-36. [CrossRef]Hermans MP, Gala JL, Buysschaert M: The MTHFR C677T polymorphism confers a high risk for stroke in both...
This variant has not been reported in GnomAD database and is a novel variant as per controlled from ClinVar and HGMD mutation databases Also coagulation tests were done Patient was heterozygote for the prothrombin mutation (FXIII) and homozygote for MTHFR C677T mutation. The patient has normal ...