A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667t mutations, but belonging to an asymptomatic family.
Soria
J M
JM
Quintana
R
R
Vallvé
C
C
Iruin
G
G
Cortés
C
C
Fontcuberta
J
J
D002648:Child; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D005192:Family Health; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics; D015183:Restriction Mapping; D019851:Thrombophilia / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)