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

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

BackgroundHereditary 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 management...

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Bibliographic Details
Main Authors: Fernando Corvillo, María Eugenia de la Morena-Barrio, Carmen Marcos-Bravo, Margarita López-Trascasa, Vicente Vicente, Jonas Emsley, Teresa Caballero, Javier Corral, Alberto López-Lera
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-09-01
Series:Frontiers in Genetics
Subjects:
hereditary angioedema
hereditary angioedema with normal C1-Inhibitor
hereditary angioedema due to FXII mutations
F12 gene
genetic disease-modifier
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.01033/full

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