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Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema

Kalmár, Lajos ; Bors, András ; Farkas, Henriette ; Vas, Szilvia ; Fandl, Barbara ; Varga, Lilian ; Füst, György ; Tordai, Attila

Human mutation, 2003-12, Vol.22 (6), p.498-498 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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  • Título:
    Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema
  • Autor: Kalmár, Lajos ; Bors, András ; Farkas, Henriette ; Vas, Szilvia ; Fandl, Barbara ; Varga, Lilian ; Füst, György ; Tordai, Attila
  • Assuntos: Angioedema ; Angioedema - diagnosis ; Angioedema - genetics ; Blotting, Southern ; C1 inhibitor ; C1INH ; C1NH ; Codon, Nonsense ; complement ; Complement C1 Inactivator Proteins - genetics ; Complement C1 Inhibitor Protein ; DNA - chemistry ; DNA - genetics ; DNA Mutational Analysis ; Exons - genetics ; Female ; Gene Deletion ; gene dosage analysis ; Genetic Testing ; HAE ; hereditary angioedema ; Humans ; Hungary ; Male ; Mutation ; Mutation, Missense ; SERPING1
  • É parte de: Human mutation, 2003-12, Vol.22 (6), p.498-498
  • Notas: Ministry of Education NKFP
    "Bolyai János" fellowship
    Communicated by Mark H. Paalman
    Ministry of Health - No. T034830; No. 1/024/2001; No. 490/2003
    Online Citation: Human Mutation, Mutation in Brief #673 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/673.pdf
    OTKA
    istex:FD3CD698555F0D0AE9D954E7271231CB5FA9A30A
    ark:/67375/WNG-7LPKSTCM-T
    ArticleID:HUMU9202
    Mutation in Brief #673 (2003)
    Human Mutation
    http://www.interscience.wiley.com/humanmutation/pdf/mutation/673.pdf
    Online Citation
    Online
    ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
  • Descrição: Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema caused by the deficiency of activated C1 esterase inhibitor protein (C1‐INH, type I (C1NH): reduced serum antigen level, type II: reduced activity and normal serum antigen level). The aim of the present study was to determine the disease‐causing mutations in the C1INH gene (SERPING1) among Hungarian HAE‐patients. The estimated number of affected HAE‐families in Hungary is 40–50, out of which 26 families (type I:23, type II:3) managed in a single center were enrolled in the current study. To detect large deletions/insertions, we used Southern‐blotting analysis followed by real time PCR based gene dosage analysis. In the absence of large structural changes, we employed direct sequencing covering the whole coding region and splicing sites of the C1INH gene. Large deletions were detected in 4/23 (17.4%) type I families. We found the g.16788C>T (p.Arg444Cys) mutation in each 3, type II HAE‐families. In the remaining type I families, 13 previously unreported mutations (g.638G>A, g.2238C>T, g.2534_2535delCT, g.2579_2620del42, g.2533G>A, g.2695G>A, g.2696_2697insT, g.4467C>T, g.14224A>T, g.14107delA, g.16749_;16775dup, g.16810T>A, g.16885C>G) were detected in 16 families affecting primarily exon 3 (6/13) of the C1INH gene. In the 3 remaining families, known mutations were identified affecting primarily exon 8 (2/3). © 2003 Wiley‐Liss, Inc.
  • Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
  • Idioma: Inglês
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