Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by path...

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Main Authors: Juan Sebastian Arias-Flórez, Sandra Ximena Ramirez, Bibiana Bayona-Gomez, Lina Castro-Castillo, Valeria Correa-Martinez, Yasmín Sanchez-Gomez, William Usaquén-Martínez, Lilian Andrea Casas-Vargas, Carlos Eduardo Olmos Olmos, Nora Contreras Bravo, Camilo Andres Velandia-Piedrahita, Adrien Morel, Rodrigo Cabrera-Perez, Natalia Santiago-Tovar, Cristian Camilo Gaviria-Sabogal, Ingrid Tatyana Bernal, Dora Janeth Fonseca-Mendoza, Carlos M Restrepo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0311316
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