A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnorm...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Taylor & Francis Group
2018-04-01
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Series: | Platelets |
Subjects: | |
Online Access: | http://dx.doi.org/10.1080/09537104.2017.1306041 |