Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
next-generation sequencing
pedigree analysis
primary angioedema
primary angioedema with normal C1 inhibitor
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
23 Oct 2020
23 Oct 2020
Historique:
received:
23
09
2020
revised:
13
10
2020
accepted:
19
10
2020
entrez:
29
10
2020
pubmed:
30
10
2020
medline:
30
10
2020
Statut:
epublish
Résumé
The genetic alteration underlying the great majority of primary angioedema with normal C1 inhibitor (nl-C1-INH-HAE) cases remains unknown. To search for variants associated with nl-C1-INH-HAE, we genotyped 133 unrelated nl-C1-INH-HAE patients using a custom next-generation sequencing platform targeting 55 genes possibly involved in angioedema pathogenesis. Patients already diagnosed with
Identifiants
pubmed: 33114181
pii: jcm9113402
doi: 10.3390/jcm9113402
pmc: PMC7690775
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Shire International GmbH, a member of the Takeda group of companies
ID : IIR-GRC-000905
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