Associated Papers
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.
Bors A et al.
The Journal of Allergy and Clinical Immunology, 2013
Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates.
Pappalardo E et al.
Molecular Immunology, 2008
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
Gösswein T et al.
Cytogenetic and Genome Research, 2008
C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease.
Beinrohr L et al.
The Journal of Biological Chemistry, 2007
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.
Agostoni A et al.
The Journal of Allergy and Clinical Immunology, 2004
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
Verpy E et al.
American Journal of Human Genetics, 1996
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
Verpy E et al.
The Journal of Clinical Investigation, 1995
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