| Autor: |
Hiromasa Yakushiji, Keiko Yamagami, Chinami Hashimura, Hiromi Iwasaki, Takahiko Horiuchi |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Internal medicine (Tokyo, Japan). |
| ISSN: |
1349-7235 |
| Popis: |
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 (PLG) gene was shown to be responsible for a subset of HAEnCI. HAE with the K330E mutation in the PLG gene-PLG (HAE-PLG) has been reported in only two Japanese families in Asia. We herein report a third family with HAE-PLG in Japan. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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