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Article

A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.

Internal medicine (Tokyo, Japan) - 1 Jul 2023

Yakushiji Hiromasa, Yamagami Keiko, Hashimura Chinami, Iwasaki Hiromi, Horiuchi Takahiko

Abstract excerpt

Hereditary angioedema (HAE) is a life-threatening disease associated with recurrent episodes of subcutaneous and mucosal swelling, painful abdominal cramping, and asphyxiation. HAE has long been thought to be caused by genetic defects of C1 inhibitors (C1-INH). Recently, HAE with a normal C1 inhibitor expression (HAEnCI) was reported, and the missense mutation p.Lys330Glu (K330E) in exon 9 of the plasminogen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema

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Source

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Identifiers

PMID: 36418094
DOI: 10.2169/internalmedicine.0645-22
PMCID: PMC10372273

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A Missense Mutation of the Plasminogen Gene in a Japanese Family with Hereditary Angioedema with Normal C1 Inhibitor: Third Family Survey in Asia.PMID 36418094Read ↗

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