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

Sheng-Chieh ChouChing-Yeh LinHsuan-Yu LinChen-Hsueh PaiCheng-Ye YuSu-Feng KuoJen-Shiou LinPo-Te LinMei-Hua HungHan-Ni HsiehHsiang-Chun LiuMing-Ching Shen

Published in: International journal of hematology (2022)

We report five unrelated patients with severe FXII deficiency, one of whom carried a novel, cross-reacting material negative mutation c.1556T>A (p.Leu500Gln).

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
early onset
cord blood
drug induced