In this study, mutation analysis of three patients with homocystinuria in a Han Chinese family is described and we identified novel compound heterozygous for mutations c.407T > C (p. L136P) in exon 3and c.473C > T (p.A158V) in exon 4 of theCBSgene (Fig. 3). So far,...
This is the first report of recurrent thrombotic acute coronary syndrome (ACS) in a patient with diabetes, compound heterozygous MTHFR mutations, Behcet’s disease with normal C-reactive protein (CRP), and no evidence of diffuse coronary artery disease.Muhammad Hamza Saad Shaukat...
A genetic analysis was conducted for a hereditary thrombophilia and compound heterozygous MTHFR C677T / MTHFR A1298C mutations were identified. After an uncomplicated clinical course, warfarin treatment was initiated. Patient was discharged when effective INR level was reached. Transthoracic ...