Associated Papers
In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.
Loli-Ausejo D et al.
Clinical Reviews in Allergy & Immunology, 2021
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.
Faiyaz-Ul-Haque M et al.
International Archives of Allergy and Immunology, 2010
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
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