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- databases for immunodeficiency-causing variations

   C9base
   Variation registry for  C9 deficiency


C9base mutation publications

[2001] [1998] [1997]

Search PubMed latest citations for C9 mutations

    2001

  • Hereditary complement (C9) deficiency associated with dermatomyositis.
    Ichikawa E, Furuta J, Kawachi Y, Imakado S, Otsuka F
    Br J Dermatol 2001(5): 1080-3 [PubMed abstract].

    1998

  • Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency.
    Kira R, Ihara K, Takada H, Gondo K, Hara T
    Hum Genet 1998(6): 605-10 [PubMed abstract].

  • Heterogeneity in the genetic basis of human complement C9 deficiency.
    Witzel-Schlömp K, Hobart MJ, Fernie BA, Orren A, Würzner R, Rittner C, Kaufmann T, Schneider PM
    Immunogenetics 1998(2): 144-7 [PubMed abstract].

    1997

  • The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure.
    Witzel-Schlömp K, Späth PJ, Hobart MJ, Fernie BA, Rittner C, Kaufmann T, Schneider PM
    J Immunol 1997(10): 5043-9 [PubMed abstract].

  • Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.
    Hobart MJ, Fernie BA, Würzner R, Oldroyd RG, Harrison RA, Joysey V, Lachmann PJ
    Clin Exp Immunol 1997(3): 500-6 [PubMed abstract].