Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia
Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Taylor & Francis Group
2020-04-01
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Series: | Platelets |
Subjects: | |
Online Access: | http://dx.doi.org/10.1080/09537104.2019.1615614 |