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Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants

22 Dec 2023

Abstract excerpt

Hemophilia, an X-linked recessive disorder, is characterized by spontaneous or trauma-induced prolonged bleeding. It is classified as hemophilia A when caused by variants in the F8 gene, and hemophilia B when caused by F9 variants. Few studies have described hemophilia variants in the Chinese population. This study aimed to investigate the clinical and genetic profiles of 193 hemophilia patients from southern...

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PMID: 38196513
DOI: 10.3389/fgene.2023.1254265

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