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

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 inhibit...

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Detalles Bibliográficos
Autores principales: Yakushiji, Hiromasa, Yamagami, Keiko, Hashimura, Chinami, Iwasaki, Hiromi, Horiuchi, Takahiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372273/
https://www.ncbi.nlm.nih.gov/pubmed/36418094
http://dx.doi.org/10.2169/internalmedicine.0645-22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10372273/
https://www.ncbi.nlm.nih.gov/pubmed/36418094
http://dx.doi.org/10.2169/internalmedicine.0645-22

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