Article
The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.
Blood - 1 Oct 2005
Freson Kathleen, De Vos Rita, Wittevrongel Christine, Thys Chantal, Defoor Johan, Vanhees Luc, Vermylen Jos, Peerlinck Kathelijne, Van Geet Chris
Abstract excerpt
The discoid form of platelets is maintained by a marginal band of tightly coiled microtubules. beta1-tubulin is the major isoform within platelet and megakaryocyte microtubules. In 24.2% of 33 unrelated inherited macrothrombocytopenia patients and in 10.6% of 272 subjects of a healthy population a P for Q substitution in beta1-tubulin was found in the highly conserved residue 43. Heterozygous carriers of the Q43P...
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