Article
A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia.
Platelets - 1 Mar 2002
Nurden Alan T, Ruan Jian, Pasquet Jean-Max, Gauthier Bruno, Combrié Robert, Kunicki Thomas, Nurden Paquita
Abstract excerpt
Glanzmann thrombasthenia (GT) is an inherited disorder where an absence of platelet aggregation is associated with quantitative or qualitative abnormalities of the alphaIIbbeta3 integrin. In rare patients, amino acid substitutions have provided information on the functional significance of specific domains within alphaIIb or beta3. We now report an elderly male GT patient (R.M.) from the south west of France...
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