Article
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.
Thrombosis and haemostasis - 1 Apr 2015
Sandrock-Lang Kirstin, Oldenburg Johannes, Wiegering Verena, Halimeh Susan, Santoso Sentot, Kurnik Karin, Fischer Lars, Tsakiris Dimitiros A, Sigl-Kraetzig Michael, Brand Brigitte, Bührlen Martina, Kraetzer Katharina, Deeg Niklas, Hund Martin, Busse Eileen, Kahle Anja, Zieger Barbara
Abstract excerpt
Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterised by quantitative and/or qualitative defects of the platelet glycoprotein (GP) IIb/IIIa complex, also called integrin αIIbβ3. αIIbβ3 is well known as a platelet fibrinogen receptor and mediates platelet aggregation, firm adhesion, and spreading. This study describes the molecular genetic analyses of 19 patients with GT who were...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Markers
- Genetic Predisposition to Disease