F12 variant (20-328) [extracellular region]

Stable Identifier
R-HSA-9653235
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
30591525 A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain

McCrae, K, Cheng, Q, Kundu, S, Verhamme, IM, Matafonov, A, Ivanov, I, Dickeson, SK, Sun, MF, Gailani, D, Mohammed, BM, Gruber, A

Blood 2019
27130860 Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations

de Groot, PG, Suffritti, C, Björkqvist, J, van Dooremalen, S, de Maat, S, Wiesenekker, CP, Cicardi, M, Maas, C, Renné, T, Pasterkamp, G, Koekman, A, Nagtegaal, W

J. Allergy Clin. Immunol. 2016
Participants
Participates
Disease
Name Identifier Synonyms
hereditary angioedema DOID:14735 HANE, Hereditary angioedema, Hereditary angioneurotic edema
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