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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| 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 |