Article

Molecular characterization of Hemophilia A in Mongolia: identification of a novel F8 frameshift mutation

2026-01-30

Abstract excerpt

<title>Abstract</title> <p> Introduction: Identifying pathogenic variants in the <italic>F8</italic> gene in patients with hemophilia A (HA) is crucial for improving genetic counseling, understanding genotype–phenotype correlations, assessing inhibitor risk, and establishing family-specific mutation profiles. Methods Long-distance were used to detect intron-22 and intron-1 inversions. While Sanger sequencing...

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Literature Corpus work: a8a52021-8001-5c95-a355-632d2462d40d
DOI: 10.21203/rs.3.rs-8631440/v1

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