Medizinische Genetik Ι Hämostasiologie

Hämostasiologie

Antithrombin III-Defizienz 
Antithrombin-Gene, MIM +107300)

Factor V Leiden, APC-Resistenz
Faktor V-Gene, G1691A, MIM *612309)

Hemophilie A
(Faktor VIII-Gen, F8-Gen, MIM +306700)

Hemophilie B
(Faktor IX, F9-Gen, MIM *300746)

Integrin, Platelet Glycoprotein IIIa
(ITGB3-Gene, MIM +173470)

Methylentetrahydrofolate-Reduktase
(MTHFR-Gene, Ala677Val, MIM *607093)

Plasminogenaktivator Inhibitor 1
(Serinproteinase-Inhibitor 1, PAI1, MIM *173360)

Protein C-Defizienz
(Protein C-Gen, MIM *612283)

Protein S-Defizienz
(Protein S-alpha-Gene, PROS1, MIM *176880)

Prothrombin - Faktor 2
(Factor 2-Gene, G20210A, MIM +176930)