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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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Detalles Bibliográficos
Autores principales:	Loules, Gedeon, Parsopoulou, Faidra, Zamanakou, Maria, Csuka, Dorottya, Bova, Maria, González-Quevedo, Teresa, Psarros, Fotis, Porebski, Gregor, Speletas, Matthaios, Firinu, Davide, del Giacco, Stefano, Suffritti, Chiara, Makris, Michael, Vatsiou, Sofia, Zanichelli, Andrea, Farkas, Henriette, Germenis, Anastasios E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690775/ https://www.ncbi.nlm.nih.gov/pubmed/33114181 http://dx.doi.org/10.3390/jcm9113402

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