Article
Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.
Thrombosis and haemostasis - 1 Dec 2007
Mor-Cohen Ronit, Rosenberg Nurit, Peretz Hava, Landau Meytal, Coller Barry S, Awidi Abdalla, Seligsohn Uri
Abstract excerpt
Alpha IIb beta 3 integrin mediates platelet aggregation following its activation. Its absence or dysfunction causes Glanzmann thrombasthenia (GT), an inherited bleeding disorder that is rare worldwide but relatively frequent in several populations with high rates of consanguinity, including Arabs in Israel and Jordan. Cysteine residues in the beta 3 epidermal growth factor (EGF) domains are involved in alpha IIb...
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