The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis.
Xi WuQiulan DingXuefeng WangJing DaiWenman WuPublished in: BMC medical genetics (2018)
There were conflicting theories about the relationship between FXII deficiency and thrombosis formation. Heterozygous F12 mutation decreases the plasma FXII activity approximately by half and cause moderate FXII deficiency. Although multiple mutations were identified in both groups, the link between F12 heterozygous mutation and development of thrombotic disorders is weak and further studies are warranted to clarify their relationship.