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- Title
Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin.
- Authors
Bork, Konrad; Wulff, Karin; Rossmann, Heidi; Steinmüller‐Magin, Lars; Brænne, Ingrid; Witzke, Günther; Hardt, Jochen
- Abstract
Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin Types of hereditary angioedema (HAE) comprise first, HAE due to C1 inhibitor (C1-INH) deficiency (HAE-C1-INH) and second, various types of HAE with normal activity of C1-INH (HAEnCI), including those with HAEnCI-specific variants in the factor XII gene ( I F12 i ) (HAE-FXII), the plasminogen ( I PLG i ) gene (HAE-PLG), and the angiopoietin-1 ( I ANGPT1 i ) gene (HAE-ANGPT1)[[1]]. We consider that the described I KNG1 i variant changing the N-terminal cleavage site of bradykinin from HMWK and LMWK could lead to a functionally active but aberrant bradykinin in HAE-KNG1.
- Publication
Allergy, 2019, Vol 74, Issue 12, p2479
- ISSN
0105-4538
- Publication type
Academic Journal
- DOI
10.1111/all.13869