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New Mutations of C1 inhibitor (SERPING1/C1NH) Gene Associated with Hereditary Angioedema in a European Population

✍ Scribed by Drouet, C.; Cicardi, M.; Pappalardo, E.; Monnier, N.; Roche, O.; Tordai, A.; Wagenaar-Bos, I.; Perricone, R.; Bygum, A.; Bork, K.; Tosi, M.; López-Trascasa, M.

Book ID
121967892
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
55 KB
Volume
119
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
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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

Hereditary angioedema: The mutation spec
Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort
✍ Olga Roche; Alvaro Blanch; Christiane Duponchel; Gumersindo Fontán; Mario Tosi; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB 👁 1 views

## Communicated by Daniel F. Schorderet Hereditary angioedema (HAE) is a disease caused by defects in the C1 inhibitor gene (SERPING1/C1NH). We screened the entire C1NH gene for mutations in a large series of 87 Spanish families (77 with type I, and 10 with type II HAE) by SSCP, sequencing, Southe