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- databases for immunodeficiency-causing variations

   C2base
   Variation registry for  C2 deficiency


C2base mutation publications

[1998] [1996] [1992]

Search PubMed latest citations for C2 mutations

    1998

  • A novel type II complement C2 deficiency allele in an African-American family.
    Zhu ZB, Atkinson TP, Volanakis JE
    J Immunol 1998(2): 578-84 [PubMed abstract].

    1996

  • Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.
    Wetsel RA, Kulics J, Lokki ML, Kiepiela P, Akama H, Johnson CA, Densen P, Colten HR
    J Biol Chem 1996(10): 5824-31 [PubMed abstract].

    1992

  • Molecular heterogeneity of C2 deficiency.
    Johnson CA, Densen P, Wetsel RA, Cole FS, Goeken NE, Colten HR
    N Engl J Med 1992(13): 871-4 [PubMed abstract].