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

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 exons 23-26, is transcribed from a promoter within intron 22. Neither FVIII acti...

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Detalles Bibliográficos
Autores principales: Gunasekera, Devi, Vir, Pooja, Karim, Ahmad Faisal, Ragni, Margaret V., Pratt, Kathleen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10015889/
https://www.ncbi.nlm.nih.gov/pubmed/36936969
http://dx.doi.org/10.3389/fimmu.2023.1128641