Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor

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 target...

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Bibliographic Details
Main Authors: Gedeon Loules, Faidra Parsopoulou, Maria Zamanakou, Dorottya Csuka, Maria Bova, Teresa González-Quevedo, Fotis Psarros, Gregor Porebski, Matthaios Speletas, Davide Firinu, Stefano del Giacco, Chiara Suffritti, Michael Makris, Sofia Vatsiou, Andrea Zanichelli, Henriette Farkas, Anastasios E. Germenis
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Journal of Clinical Medicine
Subjects:
next-generation sequencing
pedigree analysis
primary angioedema
primary angioedema with normal C1 inhibitor
Online Access:https://www.mdpi.com/2077-0383/9/11/3402

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https://www.mdpi.com/2077-0383/9/11/3402

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