دورية
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency–causing KNG1variants, and estimated prevalence
| العنوان: | Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency–causing KNG1variants, and estimated prevalence |
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| المؤلفون: | Adenaeuer, Anke, Barco, Stefano, Trinchero, Alice, Krutmann, Sarah, Nazir, Hanan Fawzy, Ambaglio, Chiara, Rocco, Vincenzo, Pancione, Ylenia, Tomao, Luigi, Ruiz-Sáez, Arlette, Echenagucia, Marion, Alesci, Sonja, Sollfrank, Stefanie, Ezigbo, Eyiuche D., Häuser, Friederike, Lackner, Karl J., Lämmle, Bernhard, Rossmann, Heidi |
| المصدر: | Journal of Thrombosis and Haemostasis; February 2023, Vol. 21 Issue: 2 p237-254, 18p |
| مستخلص: | Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1variants. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 15387933 15387836 |
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| DOI: | 10.1016/j.jtha.2022.11.011 |