Articles with "inversion mutation" as a keyword



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Hemophilia A subjects with an intron-22 gene inversion mutation show CD4+ T-effector responses to multiple epitopes in FVIII

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Published in 2023 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2023.1128641

Abstract: Background Almost half of severe hemophilia A (HA) is caused by an intron 22 inversion mutation (Int22Inv), which disrupts the 26-exon F8 gene. Inverted F8 mRNA exons 1-22 are transcribed, while F8B mRNA, containing F8… read more here.

Keywords: exon junction; fviii; inversion mutation; mutation ... See more keywords