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Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema

✍ Scribed by Göβwein, T.; Kocot, A.; Emmert, G.; Kreuz, W.; Martinez-Saguer, I.; Aygören-Pürsün, E.; Rusicke, E.; Bork, K.; Oldenburg, J.; Müller, C.R.

Book ID
120393609
Publisher
S. Karger AG
Year
2008
Tongue
French
Weight
199 KB
Volume
121
Category
Article
ISSN
1424-8581

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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 FontΓ‘n; Mario Tosi; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 389 KB πŸ‘ 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

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