A Japanese patient with hereditary angioedema caused by deep intron variation in the SERPING1 gene

J Dermatol. 2023 Sep;50(9):e309-e310. doi: 10.1111/1346-8138.16817. Epub 2023 May 8.

Authors

Tokimasa Hida¹, Aki Ishikawa², Masae Okura¹, Mari Kishibe³, Hisashi Uhara¹

Affiliations

¹ Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
² Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, Japan.
³ Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.

PMID: 37157851
DOI: 10.1111/1346-8138.16817

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Angioedemas, Hereditary* / diagnosis
Angioedemas, Hereditary* / genetics
Complement C1 Inhibitor Protein / genetics
East Asian People
Humans
Introns / genetics
Mutation

Substances

Complement C1 Inhibitor Protein
SERPING1 protein, human