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   C7base
   Variation registry for  C7 deficiency


C7base mutation publications

[2007] [2006] [2005] [2004] [2003] [2002] [1999] [1998] [1997] [1996] [1995]

Search PubMed latest citations for C7 mutations

    2007

  • Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.
    Rameix-Welti MA, Régnier CH, Bienaimé F, Blouin J, Schifferli J, Fridman WH, Sautès-Fridman C, Frémeaux-Bacchi V
    Eur J Immunol 2007(5): 1377-85 [PubMed abstract].

    2006

  • Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.
    Kang HJ, Ki CS, Kim YS, Hur M, Jang SI, Min KS
    J Clin Immunol 2006(2): 186-91 [PubMed abstract].

  • Molecular defects of the C7 gene in two patients with complement C7 deficiency.
    Barroso S, Rieubland C, José álvarez A, López-Trascasa M, Bart PA, Núñez-Roldán A, Sánchez B
    Immunology 2006(2): 257-60 [PubMed abstract].

    2005

  • Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency.
    Ki CS, Kim JW, Kim HJ, Choi SM, Ha GY, Kang HJ, Kim WD
    J Korean Med Sci 2005(2): 220-4 [PubMed abstract].

    2004

  • Complement component C7 deficiency in two Spanish families.
    Barroso S, Sánchez B, Alvarez AJ, López-Trascasa M, Lanuza A, Luque R, Wichmann I, Núñez-Roldán A
    Immunology 2004(4): 518-23 [PubMed abstract].

    2003

  • Complement component C7 deficiency in a Spanish family.
    Vázquez-Bermúdez MF, Barroso S, Walter K, Alvarez AJ, Alarcón A, López-Trascasa M, Wichmann I, Aguilar F, Núñez-Roldán A, Sánchez B
    Clin Exp Immunol 2003(2): 240-6 [PubMed abstract].

    2002

  • C7 complement deficiency in an Israeli Arab village.
    Behar D, Schlesinger M, Halle D, Ben-Ami H, Edoute Y, Shahar E, Kasis I, Shihab S, Elstein D, Zimran A, Mandel H
    Am J Med Genet 2002(1): 25-9 [PubMed abstract].

    1999

  • A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency.
    Horiuchi T, Ferrer JM, Serra P, Matamoros N, López-Trascasa M, Hashimura C, Niho Y
    J Hum Genet 1999(3): 215-8 [PubMed abstract].

    1998

  • Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.
    Fernie BA, Hobart MJ
    Hum Genet 1998(4): 513-9 [PubMed abstract].

    1997

  • Molecular bases of C7 deficiency: three different defects.
    Fernie BA, Orren A, Sheehan G, Schlesinger M, Hobart MJ
    J Immunol 1997(2): 1019-26 [PubMed abstract].

    1996

  • Genetic bases of human complement C7 deficiency.
    Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE
    J Immunol 1996(9): 4239-43 [PubMed abstract].

    1995

  • Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.
    Hobart MJ, Fernie BA, DiScipio RG
    J Immunol 1995(10): 5188-94 [PubMed abstract].