Article
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes.
Thrombosis and haemostasis - 1 Feb 1998
Rosenberg N, Dardik R, Rosenthal E, Zivelin A, Seligsohn U
Abstract excerpt
Glanzmann thrombasthenia (GT) is caused by a defect in either glycoprotein (GP)IIb (alphaIIb) or GPIIIa (beta3) genes and therefore screening of both genes is required for mutation identification. The beta subunit of the GPIIb/IIIa complex (beta3) forms a complex with another alpha subunit (alpha(v)) yielding the alpha(v)beta3 vitronectin receptor (VnR). GT patients with mutations in the GPIIIa gene that cause...
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