https://scholars.lib.ntu.edu.tw/handle/123456789/623936
Title: | Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation | Authors: | SHENG-CHIEH CHOU Lin, Ching-Yeh Lin, Hsuan-Yu Pai, Chen-Hsueh Yu, Cheng-Ye Kuo, Su-Feng Lin, Jen-Shiou Lin, Po-Te Hung, Mei-Hua Hsieh, Han-Ni Liu, Hsiang-Chun MING-CHING SHEN |
Keywords: | Cross-reacting material; Factor XII deficiency; Factor XII gene; Factor XII gene mutation; Factor XII gene promoter polymorphism; Factor XII protein | Issue Date: | Oct-2022 | Publisher: | SPRINGER JAPAN KK | Journal Volume: | 116 | Journal Issue: | 4 | Start page/Pages: | 528 | Source: | International journal of hematology | Abstract: | Factor 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/623936 | ISSN: | 0925-5710 | DOI: | 10.1007/s12185-022-03390-0 |
Appears in Collections: | 醫學院附設醫院 (臺大醫院) |
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