An update on the genetics and pathogenesis of hereditary angioedema.
Angiopoietin 1
C1 inhibitor
Factor XII
Genetics
Hereditary angioedema
Plasminogen
Journal
Genes & diseases
ISSN: 2352-3042
Titre abrégé: Genes Dis
Pays: Netherlands
ID NLM: 101635967
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
30
03
2019
revised:
27
06
2019
accepted:
12
07
2019
entrez:
18
3
2020
pubmed:
18
3
2020
medline:
18
3
2020
Statut:
epublish
Résumé
Hereditary angioedema (HAE) is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa. The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement, kinin and hemostatic pathway. Till date, mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1 (
Identifiants
pubmed: 32181278
doi: 10.1016/j.gendis.2019.07.002
pii: S2352-3042(19)30045-5
pmc: PMC7063419
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
75-83Informations de copyright
© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.
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