Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation

• Main Authors: Mendoza-Alvarez, Alejandro (Author), Muñoz-Barrera, Adrián (Author), Rubio-Rodríguez, Luis Alberto (Author), Marcelino-Rodriguez, Itahisa (Author), Corrales, Almudena (Author), Iñigo-Campos, Antonio (Author), Callero, Ariel (Author), Perez-Rodriguez, Eva (Author), Garcia-Robaina, Jose Carlos (Author), González-Montelongo, Rafaela (Author), Lorenzo-Salazar, Jose Miguel (Author), Flores, Carlos (Author)
• Format: Book
• Published: JMIR Publications, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundHereditary 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...