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Volumn 70, Issue 1, 2006, Pages 83-85

Gonadal mosaicism in hereditary angioedema [6]

Author keywords

[No Author keywords available]

Indexed keywords

ANTIHISTAMINIC AGENT; COMPLEMENT COMPONENT C1S INHIBITOR; GENOMIC DNA; STEROID;

EID: 33746886672     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00643.x     Document Type: Letter
Times cited : (12)

References (10)
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    • A biochemical abnormality in hereditary angioneurotic edema: Absence of serum inhibitor of C′ 1-esterase
    • Donaldson VH, Evans RR. A biochemical abnormality in hereditary angioneurotic edema: Absence of serum inhibitor of C′ 1-esterase. Am J Med 1963: 35: 37-44.
    • (1963) Am J Med , vol.35 , pp. 37-44
    • Donaldson, V.H.1    Evans, R.R.2
  • 2
    • 0026645882 scopus 로고
    • Hereditary and acquired C1-inhibitor deficiency: Biological and clinical characteristics in 235 patients
    • Agostoni A, Cicardi M. Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients. Medicine (Baltimore) 1992: 71: 206-215.
    • (1992) Medicine (Baltimore) , vol.71 , pp. 206-215
    • Agostoni, A.1    Cicardi, M.2
  • 3
    • 0015134842 scopus 로고
    • Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema
    • Rosen FS, Alper CA, Pensky J, Klemperer MR, Donaldson VH. Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. J Clin Invest 1971: 50: 2143-2149.
    • (1971) J Clin Invest , vol.50 , pp. 2143-2149
    • Rosen, F.S.1    Alper, C.A.2    Pensky, J.3    Klemperer, M.R.4    Donaldson, V.H.5
  • 4
    • 0031712910 scopus 로고    scopus 로고
    • Molecular genetics of C1 inhibitor
    • Tosi M. Molecular genetics of C1 inhibitor. Immunobiology 1998: 199: 358-365.
    • (1998) Immunobiology , vol.199 , pp. 358-365
    • Tosi, M.1
  • 5
    • 0011210621 scopus 로고
    • Human inhibitor of the first component of complement, C1: Characterization of cDNA clones and localization of the gene to chromosome 11
    • Davis AE III, Whitehead AS, Harrison RA et al. Human inhibitor of the first component of complement, C1: Characterization of cDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci U S A 1986: 83: 3161-3165.
    • (1986) Proc Natl Acad Sci U S A , vol.83 , pp. 3161-3165
    • Davis III, A.E.1    Whitehead, A.S.2    Harrison, R.A.3
  • 6
    • 0025852429 scopus 로고
    • Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements
    • Carter PE, Duponchel C, Tosi M, Fothergill JE. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem 1991: 97: 301-308.
    • (1991) Eur J Biochem , vol.97 , pp. 301-308
    • Carter, P.E.1    Duponchel, C.2    Tosi, M.3    Fothergill, J.E.4
  • 7
    • 0025052261 scopus 로고
    • Dysfunctional C1 inhibitor Ta: Deletion of Lys-251 results in acquisition of an N-glycosylation site
    • Parad RB, Kramer J, Strunk RC, Rosen FS, Davis AE III. Dysfunctional C1 inhibitor Ta: Deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc Natl Acad Sci U S A 1990: 87: 6786-6790.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 6786-6790
    • Parad, R.B.1    Kramer, J.2    Strunk, R.C.3    Rosen, F.S.4    Davis III., A.E.5
  • 8
    • 4444225379 scopus 로고    scopus 로고
    • Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond
    • Agostoni A, Aygoren-Pursun E, Binkley KE et al. Hereditary and acquired angioedema: ProblPms and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond. J Allergy Clin Immunol 2004: 114: S51-S131.
    • (2004) J Allergy Clin Immunol , vol.114
    • Agostoni, A.1    Aygoren-Pursun, E.2    Binkley, K.E.3
  • 9
    • 0034541410 scopus 로고    scopus 로고
    • Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema
    • Pappalardo E, Cicardi M, Duponchel C et al. Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema. J Allergy Clin Immunol 2000: 106: 1147-1154.
    • (2000) J. Allergy Clin Immunol , vol.106 , pp. 1147-1154
    • Pappalardo, E.1    Cicardi, M.2    Duponchel, C.3
  • 10
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    • Detection of C1 inhibitor mutations in patients with hereditary angioedema
    • Zuraw BL, Herschbach J. Detection of C1 inhibitor mutations in patients with hereditary angioedema. J Allergy Clin Immunol 2000: 105: 541-546.
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    • Zuraw, B.L.1    Herschbach, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.