Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Evaluation of discrepancy between clot-based and chromogenic factor IX coagulation assays in non-severe hemophilia B patients and identification of the causing mutations.
Mahdavimand M et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
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