First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0491-1
Abstract: Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1 inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and pruritus. Here, we describe the first SERPING1 genotyping in… read more here.
Keywords: serping1 gene; hereditary angioedema; analysis serping1; gene ... See more keywords
Hereditary angioedema caused by a premature stop codon mutation in the SERPING1 gene
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DOI: 10.1186/s13601-020-00360-9
Abstract: Hereditary angioedema with deficient and dysfunctional C1 inhibitor (C1-INH-HAE) is a rare genetic disorder. The majority of the cases with this disease are caused by mutations in the C1-inbitor gene SERPING1 and are classified as… read more here.
Keywords: premature stop; serping1 gene; hereditary angioedema; stop codon ... See more keywords