Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia

Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia

SLFN14-related inherited thrombocytopenia (SLFN14-related IT) is a hereditary disorder involving ribosomopathy and platelet dysfunction. Affected patients exhibit significant bleeding tendencies. To date, five affected pedigrees have been reported, all harboring mutations within the “ATPase associat...

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Bibliographic Details
Main Authors: Haixiao Xie, Shiyi Tang, Jianmin Shao, Ming Yang, Huida Tong, Linhua Zhang, Mingzhu Zhong, Xiaomin Yu, Laixi Bi, Yuming Wang, Rongying Ou, Chen Ling, Liqing Zhu
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Diagnostics and Biosensors
mutation
macrothrombocytopenia
SLFN14
helicase
phenotype
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253125001088
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