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...
We present the case of a 40-year-old female patient with ST-segment elevation myocardial infarction successfully treated with a primary percutaneous coronary intervention. Thrombophilia testing revealed compound heterozygous MTHFR (C677T and A1298C) variants. We searched the literature for myocardial inf...
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 ...
Plasma homocysteine (tHcy) is an independent risk factor for cardiovascular (CV) disease. The methylene–tetrahydrofolate reductase (MTHFR) gene polymorphism (thermolabile variant C677T) is associated with CV risk, partly as a result of increased Hcy, especially in homozygous subjects.M....
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 ...
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
A NEWBORN CASE OF INTESTINAL INFARCTION WITH HOMOZYGOUS MTHFR C677T AND HETEROZYGOUS OF FACTOR V LEIDEN G1691A, PAI-1 4G/5G MUTATIONS... G.,SANDAL,L.,... - 《Genetic Counseling》 被引量: 0发表: 2014年 Unilateral renal vein thrombosis in a newborn heterozygous of the factor II G2021...
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 ...
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...