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Article

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

International journal of hematology - 1 Oct 2022

Chou Sheng-Chieh, 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, Shen Ming-Ching

Abstract excerpt

BACKGROUND: 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. METHODS: Consecutive severely FXII...

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Identifiers

PMID: 35675023
DOI: 10.1007/s12185-022-03390-0
PMCID: PMC9174919

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