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Journal Abstract Search

229 related items for PubMed ID: 20306692

  • 21.
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  • 22. Hereditary angioedema: a Taiwanese family with a novel gene mutation.
    Wen DC, Shyur SD, Wu JY, Lin CC, Chiang YC, Huang LH, Lin MT, Yang HC, Liang PH.
    Asian Pac J Allergy Immunol; 2007; 25(2-3):163-7. PubMed ID: 18035804
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  • 23. Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.
    Kalmár L, Bors A, Farkas H, Vas S, Fandl B, Varga L, Füst G, Tordai A.
    Hum Mutat; 2003 Dec; 22(6):498. PubMed ID: 14635117
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  • 25. Hereditary angioedema nationwide study in Slovenia reveals four novel mutations in SERPING1 gene.
    Rijavec M, Korošec P, Šilar M, Zidarn M, Miljković J, Košnik M.
    PLoS One; 2013 Dec; 8(2):e56712. PubMed ID: 23437219
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  • 27. Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
    Colobran R, Lois S, de la Cruz X, Pujol-Borrell R, Hernández-González M, Guilarte M.
    Clin Immunol; 2014 Feb; 150(2):143-8. PubMed ID: 24412907
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  • 28. Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.
    Bafunno V, Bova M, Loffredo S, Divella C, Petraroli A, Marone G, Montinaro V, Margaglione M, Triggiani M.
    Ann Hum Genet; 2014 Mar; 78(2):73-82. PubMed ID: 24456027
    [Abstract] [Full Text] [Related]

  • 29. Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
    Steiner UC, Keller M, Schmid P, Cichon S, Wuillemin WA.
    Clin Exp Immunol; 2017 Jun; 188(3):430-436. PubMed ID: 28194776
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  • 30.
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  • 32. A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.
    Colobran R, Pujol-Borrell R, Hernández-González M, Guilarte M.
    J Clin Immunol; 2014 Jul; 34(5):521-3. PubMed ID: 24760113
    [Abstract] [Full Text] [Related]

  • 33. Detection of C1 inhibitor mutations in patients with hereditary angioedema.
    Zuraw BL, Herschbach J.
    J Allergy Clin Immunol; 2000 Mar; 105(3):541-6. PubMed ID: 10719305
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  • 34.
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  • 36. Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.
    Moreno AS, Valle SO, Levy S, França AT, Serpa FS, Arcuri HA, Palma MS, Campos WN, Dias MM, Ponard D, Monnier N, Lunardi J, Bork K, Silva WA, Arruda LK.
    Int Arch Allergy Immunol; 2015 Mar; 166(2):114-20. PubMed ID: 25790805
    [Abstract] [Full Text] [Related]

  • 37. Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.
    Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E, Leiria-Pinto P, Ferreira MB, Pereira C, Castel-Branco MG, Pais L.
    Mol Immunol; 2013 Apr; 53(4):431-4. PubMed ID: 23123409
    [Abstract] [Full Text] [Related]

  • 38. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.
    Bowen B, Hawk JJ, Sibunka S, Hovick S, Weiler JM.
    Clin Immunol; 2001 Feb; 98(2):157-63. PubMed ID: 11161971
    [Abstract] [Full Text] [Related]

  • 39. Characteristics of patients with C1 esterase inhibitor deficiency: a single center study.
    Soyak Aytekin E, Çağdaş D, Tan C, Tezcan İ.
    Eur Ann Allergy Clin Immunol; 2021 Mar; 53(2):75-79. PubMed ID: 32351099
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  • 40.
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