Article
No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
Scandinavian journal of immunology - 1 Jul 2011
Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J, Daňková E, Kopecký O, Zachová R, Lahodná M, Vašáková M, Grodecká L, Litzman J
Abstract excerpt
Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation with its causal mutation in the C1 inhibitor (SERPING1) gene. It is characterized by substantial symptom variability even in affected members of the same family. Therefore, it is likely that genetic factors outside the SERPING1 gene have an influence on disease manifestation. In this study, functional polymorphisms...
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