Article

Novel Heterozygous variant of the SERPING1 gene associated with hereditary angioedema in an Italian family based in Australia

2024-10-26

Abstract excerpt

Hereditary angioedema (HAE) is a relatively uncommon condition, affecting estimated 1 in 50,000 people and presents with potentially life threatening angioedema involving mucosal and/or cutaneous surfaces [1-3]. We describe a case of a newly identified a likely pathogenic heterozygous variant of Leu197Pro Serping 1 of the SERPING1 gene associated with hereditary angioedema in an Italian family based in Australia.

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Literature Corpus work: 71c01700-4f00-5fa2-ab50-f440b030abb7
DOI: 10.22541/au.172998661.14135552/v1

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