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SERPING1 mutations in 59 families with hereditary angioedema

✍ Scribed by Alberto López-Lera; Sofía Garrido; Olga Roche; Margarita López-Trascasa


Book ID
113805625
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
780 KB
Volume
49
Category
Article
ISSN
0161-5890

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Hereditary angioedema: The mutation spec
✍ 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