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...

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Bibliographic Details
Main Authors: Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan
Format: Article
Language:English
Published: Taylor & Francis Group 2018-04-01
Series:Platelets
Subjects:
Online Access:http://dx.doi.org/10.1080/09537104.2017.1306041