A novel homozygous missense mutation (Met527Ile) in a consanguineous marriage family with inherited factor XII deficiency.
Meina LiuHuanhuan WangMiaomiao LinYanhui JinLihong YangMingshan WangPublished in: Hematology (Amsterdam, Netherlands) (2021)
The novel mutation Met527Ile could potentially account for the reduced activity of FXII in this family.