Associated Papers
KNG1 mutations (c.618 T > G and c.1165C > T) cause disruption of the Cys206-Cys218 disulfide bond and truncation of the D5 domain leading to hereditary high molecular weight kininogen deficiency.
Lv X et al.
Clinical Biochemistry, 2025
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.
Adenaeuer A et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.
Barco S et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
The First Korean Case of High-Molecular-Weight Kininogen Deficiency, With a Novel Variant, c.488delG, in the KNG1 Gene.
Jeong D et al.
Annals of Laboratory Medicine, 2020
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