Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B

Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B

Abstract Background Hemophilia B (HB), a rare bleeding disorder, shows X‐linked recessive inheritance and is caused by heterogeneous variants in the FIX gene (F9) encoding coagulation factor IX (FIX). This study aimed to investigate the molecular pathogenesis of a novel Met394Thr variant causing HB....

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Bibliographic Details
Main Authors: Linna Lu, Lingyu Wang, Wukang Shen, Shuai Fang, Lidong Zhao, Xuchen Hu, Linhua Yang, Gang Wang
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
bioinformatics
factor IX (FIX)
hemophilia B
molecular pathogenesis
novel variant
Online Access:https://doi.org/10.1002/mgg3.2147

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