Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation

SHENG-CHIEH CHOULin, Ching-YehChing-YehLinLin, Hsuan-YuHsuan-YuLinPai, Chen-HsuehChen-HsuehPaiYu, Cheng-YeCheng-YeYuKuo, Su-FengSu-FengKuoLin, Jen-ShiouJen-ShiouLinLin, Po-TePo-TeLinHung, Mei-HuaMei-HuaHungHsieh, Han-NiHan-NiHsiehLiu, Hsiang-ChunHsiang-ChunLiuMING-CHING SHEN2022-10-242022-10-242022-100925-5710https://scholars.lib.ntu.edu.tw/handle/123456789/623936Factor XII (FXII) deficiency is an interesting condition that causes prolonged activated partial thromboplastin time without bleeding diathesis. FXII may be not important in hemostasis, but still plays roles in thrombosis and inflammation. In order to raise clinical awareness about this condition, we studied patients with severe FXII deficiency and their relatives.enCross-reacting material; Factor XII deficiency; Factor XII gene; Factor XII gene mutation; Factor XII gene promoter polymorphism; Factor XII proteinCharacterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutationjournal article10.1007/s12185-022-03390-0356750232-s2.0-85131570803WOS:000807900900001https://api.elsevier.com/content/abstract/scopus_id/85131570803