Associated Papers
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
Ponard D et al.
Human Mutation, 2020
Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema.
Haslund D et al.
The Journal of Clinical Investigation, 2019
Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.
Gösswein T et al.
Cytogenetic and Genome Research, 2008
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