Article
Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.
Genes - 27 Nov 2024
Morris Olivia, Morris Michele, Jobe Shawn, Bhargava Disha, Krueger Jena M, Arora Sanjana, Prokop Jeremy W, Stenger Cynthia
Abstract excerpt
BACKGROUND: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes. METHODS: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and...
Topics
- Humans
- Hemophilia A
- Factor VIII
- Female
- Male
- Mutation, Missense
- Chromosomes, Human, X
- Genetic Predisposition to Disease