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

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

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. Druh J - Článek v odborném periodiku Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. Druh J - Článek v odborném periodiku (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. Druh J - Článek v odborném periodiku Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. Druh J - Článek v odborném periodiku (en)
skos:notation	RIV/00159816:_____/02:#0000436!RIV10-MZ0-00159816
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NI5220)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Litzman, Jiří Kuklínek, Pavel
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice u sv.Anny v Brně
http://linked.open...dnocenehoVysledku	646296
http://linked.open...ai/riv/idVysledku	RIV/00159816:_____/02:#0000436
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	hereditary angioedema, C1 inhibitor, mutation screening (en)
http://linked.open.../riv/klicoveSlovo	C1 inhibitor hereditary angioedema mutation screening
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[D26FCDDAEA40]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EC
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Project Immunological reactivity in patients with hereditary angioedema
http://linked.open...UplatneniVysledku	2002
http://linked.open...v/svazekPeriodika	19
http://linked.open...iv/tvurceVysledku	Freiberger, Tomáš Litzman, Jiří Kuklínek, Pavel Vyskočilová, Martina Kolářová, Lenka Mejstřík, Pavel
issn	1059-7794
number of pages	6 (xsd:int)

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