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Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A

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Inhibitor development affects about 30% of patients with severe haemophilia A (HA) and results from different environmental and genetic risk factors. Previously, we identified the missense variant rs3754689 in the… Click to show full abstract

Inhibitor development affects about 30% of patients with severe haemophilia A (HA) and results from different environmental and genetic risk factors. Previously, we identified the missense variant rs3754689 in the LCT gene linked with this predisposition. Since rs3754689 variant is benign and is located in a conserved haplotype region, we hypothesized that the association signal captured by this variant is located in coinherited, neighbouring genes.

Keywords: inhibitor development; severe haemophilia; patients severe; region

Journal Title: Haemophilia
Year Published: 2022

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