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...
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 |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-09-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.01033/full |
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