The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant

BACKGROUND: Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis and manageme...

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Detalles Bibliográficos
Autores principales: Corvillo, Fernando, de la Morena-Barrio, María Eugenia, Marcos-Bravo, Carmen, López-Trascasa, Margarita, Vicente, Vicente, Emsley, Jonas, Caballero, Teresa, Corral, Javier, López-Lera, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549737/
https://www.ncbi.nlm.nih.gov/pubmed/33133137
http://dx.doi.org/10.3389/fgene.2020.01033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549737/
https://www.ncbi.nlm.nih.gov/pubmed/33133137
http://dx.doi.org/10.3389/fgene.2020.01033

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