Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.

@article{Nelson2005ThreeNB,
  title={Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.},
  author={Everette J R Nelson and Jian-jun Li and William Beau Mitchell and Mammen Chandy and Alok Srivastava and Barry S. Coller},
  journal={Journal of thrombosis and haemostasis : JTH},
  year={2005},
  volume={3 12},
  pages={2773-83}
}
BACKGROUND Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder characterized by lack of platelet aggregation in response to most physiological agonists and caused by either a lack or dysfunction of the platelet integrin alpha(IIb)beta3 (glycoprotein IIb/IIIa). OBJECTIVES To determine the molecular basis of GT and characterize the mutations by in vitro expression studies. PATIENTS We studied three unrelated patients from southern India whose diagnosis was consistent… CONTINUE READING

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