Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant in a large Chinese family-Reference-Cited by-同舟云学术

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Severe high-molecular-weight kininogen deficiency due to a homozygous c.1456C > T nonsense variant in a large Chinese family

Published:2020-03-17 Issue:4 Volume:50 Page:989-994
ISSN:0929-5305
Container-title:Journal of Thrombosis and Thrombolysis
language:en
Short-container-title:J Thromb Thrombolysis

Author:

Yang Jing,Fan Liankai,Qiao Yacui,Zhao Yongqiang,Zhu Tienan

Funder

Natural Science Foundation of Beijing Municipality

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,Hematology

Link

http://link.springer.com/content/pdf/10.1007/s11239-020-02088-6.pdf

Reference24 articles.

1. Schmaier AH (2016) The contact activation and kallikrein/kinin systems: pathophysiologic and physiologic activities. J Thromb Haemost 14(1):28–39

2. Saito H, Ratnoff OD, Waldmann R, Abraham JP (1975) Fitzgerald trait: deficiency of a hitherto unrecognized agent, fitzgerald factor, participating in surface-mediated reactions of clotting, fibrinolysis, generation of kinins, and the property of diluted plasma enhancing vascular permeability (PF/Dil). J Clin Invest 55(5):1082–1089

3. Waldmann R, Abraham JP, Rebuck JW, Caldwell J, Saito H, Ratnoff OD (1975) Fitzgerald factor: a hitherto unrecognised coagulation factor. Lancet 1(7913):949–951

4. Colman RW, Bagdasarian A, Talamo RC, Scott CF, Seavey M, Guimaraes JA, Pierce JV, Kaplan AP (1975) Williams trait. Human kininogen deficiency with diminished levels of plasminogen proactivator and prekallikrein associated with abnormalities of the Hageman factor-dependent pathways. J Clin Invest 56(6):1650–1662

5. Wuepper KD, Miller DR, Lacombe MJ (1975) Flaujeac trait. Deficiency of human plasma kininogen. J Clin Invest 56(6):1663–1672

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency–causing KNG1 variants, and estimated prevalence;Journal of Thrombosis and Haemostasis;2023-02

2. Prekallikrein deficiency: Challenges in laboratory testing;International Journal of Laboratory Hematology;2022-04-04

3. The contact activation system and vascular factors as alternative targets for Alzheimer's disease therapy;Research and Practice in Thrombosis and Haemostasis;2021-05

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