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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2020
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584987/
https://www.ncbi.nlm.nih.gov/pubmed/33034563
http://dx.doi.org/10.2196/19040

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