In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency
David Loli‐Ausejo, Alberto López‐Lera, Christian Drouet, Marina Lluncor, Elsa Phillips‐Anglés, María Pedrosa, Rosario Cabañas, Teresa Caballero
Topics & Concepts
Hereditary angioedemaGenotypeMissense mutationGenotype-phenotype distinctionC1-inhibitorMedicinePhenotypeAngioedemaGene mutationMutationDiseaseGeneticsAlleleGeneImmunologyInternal medicineGastroenterologyBiologyCoagulation, Bradykinin, Polyphosphates, and AngioedemaHemophilia Treatment and ResearchPeptidase Inhibition and Analysis