Article
New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl.
Thrombosis and haemostasis - 1 Apr 2003
Meyer Michael, Franke Kathrin, Richter Walter, Steiniger Frank, Seyfert Ulrich T, Schenk Joachim, Treuner Jörn, Haberbosch Werner, Eisert Roswit, Barthels Monika
Abstract excerpt
Four new molecular abnormalities in the gamma subdomain of the D domain elucidated in three unrelated thrombophilic patients and in one asymptomatic case of hypofibrinogenemia are reported: fibrinogen Suhl, gamma 326, Cys-->Tyr, fibrinogen Hannover VI, gamma 336 Met-->Ile, fibrinogen Stuttgart, gamma 345, Asn-->Asp and fibrinogen Homburg VII, gamma 354,Tyr-->Cys. In all cases, fibrin polymerization in plasma is...
Topics
- Adult
- Albumins
- Base Sequence
- Blotting, Western
- Calcium
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Fibrin
- Fibrinogen
- Fibrinolysin
- Humans
- Immunoblotting