title: MTHFR C677T and prothrombin G20210A mutations in a woman from Dalmatia with silent brain infarction. .
abstract: A 55-year-old, previously healthy woman, presented with frequent headaches. She had no neurological disturbances, but had a positive family history; her father died from stroke. Magnetic resonance imaging showed brain infarction; therefore detailed diagnostic evaluation of thrombophilia markers and genetic testing were performed. The patient was found to be homozy- gous for the C677T mutation of the methylenetetrahydrofolate reductase gene and heterozygous for the mutation of the prothrombin G20210A gene. No other cause of cerebral infarction was found in the patient.
authors.forename: Nikolina
authors.initials: N
authors.lastname: Ivica
authors.forename: Irena
authors.initials: I
authors.lastname: Pintarić
authors.forename: Marina
authors.initials: M
authors.lastname: Titlić
mesh_terms: D000409:Alanine; D000925:Anticoagulants / Q000627:therapeutic use; D015415:Biomarkers / Q000378:metabolism; D020520:Brain Infarction / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D017523:Croatia; D003545:Cysteine; D005260:Female; D005998:Glycine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics*; D013912:Threonine; D019851:Thrombophilia / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000925:Anticoagulants; D015415:Biomarkers; D013912:Threonine; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003545:Cysteine; D000409:Alanine; D005998:Glycine