Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

Abstract Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor, which is required for platelet aggregation, firm adhesion, and also s...

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Bibliographic Details
Main Authors: F. Zafarghandi Motlagh, M. S. Fallah, H. Bagherian, T. Shirzadeh, S. Ghasri, S. Dabbagh, M. Jamali, Z. Salehi, M. Abiri, S. Zeinali
Format: Article
Language:English
Published: BMC 2019-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glanzmann thrombasthenia
αIIbβ3
ITGA2B
ITGB3
Iran
Online Access:http://link.springer.com/article/10.1186/s13023-019-1042-4

Internet

http://link.springer.com/article/10.1186/s13023-019-1042-4

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