Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease

Identification of a de novo MYH9 mutation in a Chinese family with MYH9-related disease

Objectives MYH9-related disease (MYH9-RD) is a congenital bleeding disorder characterized by thrombocytopenia, platelet macrocytosis, inclusion bodies in neutrophils.The aim of this study was to investigate a Chinese family with MYH9-RD and to identity potential mutations of the MYH9. This investiga...

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Bibliographic Details
Main Authors: Ruimin Cai, Shiyu Bai, Yanjun Liu, Fei Li, Wenyang Wang, Yi Li, Qiang Feng
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Hematology
Subjects:
MYH9-related disease
macrothrombocytopenia
DNA analysis
coiled-coil domain
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2025.2532923
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