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 deficiencyon March 13, 2025 at 7:28 am
Publication date: March 2025 Source: Clinical Biochemistry, Volume 136 Author(s): Xiaoying Lv, Pingping Li, Ying Gui, Caili Qin, Shan Huang, Yunwei Qi, Huaping Chen, Fuyong Zhang