Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B

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. METHODS...

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Detalles Bibliográficos
Autores principales: Lu, Linna, Wang, Lingyu, Shen, Wukang, Fang, Shuai, Zhao, Lidong, Hu, Xuchen, Yang, Linhua, Wang, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178796/
https://www.ncbi.nlm.nih.gov/pubmed/36795372
http://dx.doi.org/10.1002/mgg3.2147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178796/
https://www.ncbi.nlm.nih.gov/pubmed/36795372
http://dx.doi.org/10.1002/mgg3.2147

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