Human genomics
Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B.
Huayang Zhang, Chong Wang, Meixiu Gu, Zhimin Meng, Yichao Guo, Weitao Zhang, Dario Balestra, Wei Guo, Beili Wang
Published: 202610.1186/s40246-025-00890-y
Abstract
BACKGROUND: Hemophilia B (HB), an X-linked recessive disorder, results from variants in the coagulation factor IX gene (F9). The F9 c.520 + 13 A > G variant is a recurrent intronic variant in HB patients, accounting for 15.05% of all documented F9 in…
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