Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation. Rev Esp Cardiol. 2010;63:1366.D'Amato N, Correale M, D'Agostino C. Aortic thrombus and acute pulmonary embolism in an individual heterozygous for the MTHFR C677T mutation. Rev Esp ...
The article discusses two cases where the Taqman system failed to accurately genotype the MTHFR C677T polymorphism due to a rare GA heterozygous mutation at the MTHFR 679 locus. The study highlights the challenges in genotyping methodologies and emphasizes the need for adaptability in clinical ...
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
Hermans M, Gala JL, Buysschaert M (2006) The MTHFR C677T polymorphism confers a high risk for stroke in both homozygous and heterozygous T allele carriers with Type 2 diabetes. Diabetic medicine 23: 529-536.Hermans MP, Gala JL, Buysschaert M. The MTHFR CT polymor- phism confers a ...
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 ...