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Article

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies

Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected Eu...

Ke Zhang, Langyi Qin, Fei Xu, Longying Ye… in Orphanet Journal of Rare Diseases (2024)