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Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia
Journal of Thrombosis and Haemostasis, 10/29/09
Kannan M et al. – The severe type I GT was the most common subtype found in this study. Missense mutations were identified as the defects responsible for most GT patients. Carrier detection and genetic counseling in these families is a potentially effective alternative for decreasing the burden of severe type of GT.
Kannan and Saxena, 10/30/09
| we have a strong belief that further analysis of these molecular defect will result in finding the exact molecular mechanism involved in GT. Moreover, the molecular defect should always be confirmed by proteomics studies. Carrier detection is certainly helpful in the families of severe GT patients. |
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