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Article

Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2021

Zhang Haiyue, Pan Dongli, Shen Weifeng

Abstract excerpt

The aim of this study was to elucidate the molecular defects of a Chinese family with hereditary coagulation factor XII (FXII) deficiency. The FXII activity (FXII:C) and FXII antigen (FXII:Ag) levels were measured by clotting assay and ELISA, respectively. To identify mutations, the F12 gene sequencing was carried out. ClustalX-2.1-win and four online bioinformatics tools were applied to study the conservatism...

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PMID: 33973893
DOI: 10.1097/MBC.0000000000001044

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