Clinical utility gene card for: Glanzmann thrombasthenia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2012151.pdf
Reference23 articles.
1. Nurden AT : Glanzmann thrombasthenia. Orphanet J Rare Dis 2006; 1: 10.
2. George JN, Caen JP, Nurden AT : Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 1990; 75: 1383–1395.
3. Nurden AT, Fiore M, Nurden P, Pillois X : Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011; 118: 5996–6005.
4. Nurden AT, Fiore M, Pillois X, Nurden P : Genetic testing in the diagnostic evaluation of inherited platelet disorders. Semin Thromb Hemost 2009; 35: 204–212.
5. Fiore M, Nurden AT, Vinciguerra C, Nurden P, Pillois X : Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis. Thromb Haemost 2010; 104: 1076–1077.
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