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• W1607403744 endingPage "84" @default.
• W1607403744 startingPage "76" @default.
• W1607403744 abstract "Hereditary angioedema (HAE), type I and II, is an autosomal dominant disease with deficiency of functional C1 inhibitor protein causing episodic swellings of skin, mucosa and viscera. HAE is a genetically heterogeneous disease with more than 200 different mutations in the SERPING1 gene. A genotype-phenotype relationship does not seem to exist in HAE, although the polymorphism c.-21T>C of exon 2 has been reported to be associated with a more severe phenotype. We aimed to establish the mutational spectrum of C1 inhibitor deficiency in Denmark and investigate the possible disease-aggravating effect of the c.-21T>C polymorphism.Hereditary angioedema was diagnosed based on clinical features and C1 inhibitor deficiency. A general severity score ranging from 0 to 10 was developed based on age at disease onset, clinical manifestations and treatment experiences. SERPING1 gene investigation was performed by exon sequencing followed by multiplex ligation-dependent probe amplification genomic rearrangement analysis in all known Danish HAE families.Fifty-nine patients with HAE from 26 families were included in this study. The mean disease severity score was 7.12 [1-10], and the mean C1 inhibitor function was 26% [20-46%]. The sensitivity of the mutational screening was 96%, and 13 new mutations were found in this Danish patient cohort. Nine patients (15%) carried the c.-21T>C polymorphism, but they didn't have a more severe phenotype.Thirteen new mutations were identified in the Danish HAE population. No correlation between the c.-21T>C polymorphism, the biochemical values of C1 inhibitor function and the clinical severity score was found." @default.
• W1607403744 created "2016-06-24" @default.
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• W1607403744 date "2010-08-30" @default.
• W1607403744 modified "2023-09-25" @default.
• W1607403744 title "Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency" @default.
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• W1607403744 doi "https://doi.org/10.1111/j.1398-9995.2010.02456.x" @default.
• W1607403744 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20804470" @default.
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