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Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency

✍ Scribed by A. Bygum; C. R. Fagerberg; D. Ponard; N. Monnier; J. Lunardi; C. Drouet

Book ID
110887227
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
233 KB
Volume
66
Category
Article
ISSN
0105-4538

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Detection of C1 inhibitor (SERPING1/C1NH
Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations
✍ Alvaro Blanch; Olga Roche; Eduardo LΓ³pez-Granados; Gumersindo FontΓ‘n; Margarita πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 1 views

Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor gene (SERPING1, C1NH) and the result is C1 inhibitor deficiency, either in levels or function. We have searched exon 8 for mutations by direct sequencing and analyzed the rest of the exons by SSCP in 87 Spanish families affected