Article
Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders.
British journal of haematology - 1 Jun 2004
González-Conejero R, Corral J, Guerrero J A, Iniesta J A, Rivera J, de Arriba F, Vicente V
Abstract excerpt
A polymorphism of the gene encoding the extra-large stimulatory G-protein alpha-subunit (XLalphas), originally identified in three patients with a bleeding tendency, involved a 36-bp insertion and two missense changes. A paternally-inherited insertion displayed a moderate platelet Gsalpha over-expression, which lead to platelet hypo-reactivity. These data prompted us to investigate the genetic, functional and...
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