Molecular pathogenesis of a novel Met394Thr variant causing hemophilia B.

Linna LuLingyu WangWukang ShenShuai FangLidong ZhaoXuchen HuLinhua YangGang Wang

Published in: Molecular genetics & genomic medicine (2023)

We identified FIX-Met394Thr as a novel causative variant of HB. Further understanding of the molecular pathogenesis underlying FIX deficiency may guide novel strategies for precision HB therapy.

Keyphrases

tyrosine kinase
single molecule
mesenchymal stem cells
bone marrow