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Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations

✍ Scribed by Alvaro Blanch; Olga Roche; Eduardo López-Granados; Gumersindo Fontán; Margarita López-Trascasa

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
10 KB
Volume
21
Category
Article
ISSN
1059-7794

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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 López-Granados; Gumersindo Fontán; Margarita 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB

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

Five novel mutations in the C1 inhibitor
Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema
✍ Tomáš Freiberger; Lenka Kolárová; Pavel Mejstrík; Martina Vyskocilová; Pavel Kuk 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB

Communicated by Mark H. Paalman Hereditary angioedema (HAE) is a disorder characterised by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 inh, or C1NH). Most patients with HAE have an ab