About: Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.     Goto   Sponge   NotDistinct   Permalink

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  • 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 absolute deficiency of C1 inh (type I HAE) while the rest (15% of kindreds) synthetize a dysfunctional C1 inh protein (type II HAE). In this report a novel use of denaturing gradient gel electrophoresis (DGGE) followed by direct sequencing of the C1 inhibitor gene is presented.
  • 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 absolute deficiency of C1 inh (type I HAE) while the rest (15% of kindreds) synthetize a dysfunctional C1 inh protein (type II HAE). In this report a novel use of denaturing gradient gel electrophoresis (DGGE) followed by direct sequencing of the C1 inhibitor gene is presented. (en)
Title
  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. (en)
skos:prefLabel
  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema.
  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. (en)
skos:notation
  • RIV/00159816:_____/02:#0000415!RIV10-MZ0-00159816
http://linked.open...avai/riv/aktivita
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  • P(NI5220), P(NI5558)
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  • 4
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  • 646294
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  • RIV/00159816:_____/02:#0000415
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  • hereditary angioedema, C1 inhibitor, mutation screening (en)
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  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [AE394833D708]
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  • Human Mutation
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  • 19
http://linked.open...iv/tvurceVysledku
  • Freiberger, Tomáš
  • Litzman, Jiří
  • Kuklínek, Pavel
  • Vyskočilová, Martina
  • Kolářová, Lenka
  • Mejstřík, Pavel
issn
  • 1059-7794
number of pages
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