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Detection of C1 inhibitor mutations in patients with hereditary angioedema

✍ Scribed by Zuraw, Bruce L.; Herschbach, Jack

Book ID
119764752
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
152 KB
Volume
105
Category
Article
ISSN
1097-6825

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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