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Volumn 123, Issue 4, 2009, Pages 962-964

A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; MESSENGER RNA;

EID: 63449101032     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2008.12.022     Document Type: Letter
Times cited : (8)

References (6)
  • 1
    • 33646026697 scopus 로고    scopus 로고
    • Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor
    • Dewald G., and Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun 343 (2006) 1286-1289
    • (2006) Biochem Biophys Res Commun , vol.343 , pp. 1286-1289
    • Dewald, G.1    Bork, K.2
  • 2
    • 0031712910 scopus 로고    scopus 로고
    • Molecular genetics of C1 inhibitor
    • Tosi M. Molecular genetics of C1 inhibitor. Review. Immunobiology 199 (1998) 358-365
    • (1998) Review. Immunobiology , vol.199 , pp. 358-365
    • Tosi, M.1
  • 3
    • 46749122195 scopus 로고    scopus 로고
    • Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates
    • Pappalardo E., Caccia S., Suffritti C., Tordai A., Zingale L.C., and Cicardi M. Mutation screening of C1 inhibitor gene in 108 unrelated families with hereditary angioedema: functional and structural correlates. Mol Immunol 45 (2008) 3536-3544
    • (2008) Mol Immunol , vol.45 , pp. 3536-3544
    • Pappalardo, E.1    Caccia, S.2    Suffritti, C.3    Tordai, A.4    Zingale, L.C.5    Cicardi, M.6
  • 4
    • 0029816014 scopus 로고    scopus 로고
    • Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema
    • Verpy E., Biasotto M., Brai M., Misiano G., Meo T., and Tosi M. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema. Am J Hum Genet 59 (1996) 308-319
    • (1996) Am J Hum Genet , vol.59 , pp. 308-319
    • Verpy, E.1    Biasotto, M.2    Brai, M.3    Misiano, G.4    Meo, T.5    Tosi, M.6
  • 5
    • 0037403840 scopus 로고    scopus 로고
    • Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol
    • Pappalardo E., Zingale L.C., and Cicardi M. Increased expression of C1-inhibitor mRNA in patients with hereditary angioedema treated with Danazol. Immunol Lett 86 (2003) 271-276
    • (2003) Immunol Lett , vol.86 , pp. 271-276
    • Pappalardo, E.1    Zingale, L.C.2    Cicardi, M.3
  • 6
    • 33845213198 scopus 로고    scopus 로고
    • First case of homozygous C1 inhibitor deficiency [published erratum appears in J Allergy Clin Immunol 2007;119:745]
    • Blanch A., Roche O., Urrutia I., Gamboa P., Fontán G., and López-Trascasa M. First case of homozygous C1 inhibitor deficiency [published erratum appears in J Allergy Clin Immunol 2007;119:745]. J Allergy Clin Immunol 118 (2006) 1330-1335
    • (2006) J Allergy Clin Immunol , vol.118 , pp. 1330-1335
    • Blanch, A.1    Roche, O.2    Urrutia, I.3    Gamboa, P.4    Fontán, G.5    López-Trascasa, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.