Article
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
Journal of medical Internet research - 9 Oct 2020
Mendoza-Alvarez Alejandro, Muñoz-Barrera Adrián, Rubio-Rodríguez Luis Alberto, Marcelino-Rodriguez Itahisa, Corrales Almudena, Iñigo-Campos Antonio, Callero Ariel, Perez-Rodriguez Eva, Garcia-Robaina Jose Carlos, González-Montelongo Rafaela, Lorenzo-Salazar Jose Miguel, Flores Carlos
Abstract excerpt
BACKGROUND: Hereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration. Hereditary angioedema is a poorly recognized clinical entity and is very often misdiagnosed as a histaminergic angioedema. Despite its genetic nature, first-line genetic screening is not integrated in routine...
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