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- databases for immunodeficiency-causing variations

   C1Sbase
   Variation registry for  C1s deficiency


C1Sbase mutation publications

[2009] [2008] [2001] [1999] [1998]

Search PubMed latest citations for C1S mutations

    2009

  • Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family.
    Abe K, Endo Y, Nakazawa N, Kanno K, Okubo M, Hoshino T, Fujita T
    J Immunol 2009(3): 1681-8 [PubMed abstract].

    2008

  • Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene.
    Amano MT, Ferriani VP, Florido MP, Reis ES, Delcolli MI, Azzolini AE, Assis-Pandochi AI, Sjöholm AG, Farah CS, Jensenius JC, Isaac L
    Mol Immunol 2008(6): 1693-702 [PubMed abstract].

    2001

  • Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.
    Dragon-Durey MA, Quartier P, Frémeaux-Bacchi V, Blouin J, de Barace C, Prieur AM, Weiss L, Fridman WH
    J Immunol 2001(12): 7612-6 [PubMed abstract].

    1999

  • Molecular basis of human complement C1s deficiency.
    Endo Y, Kanno K, Takahashi M, Yamaguchi K, Kohno Y, Fujita T
    J Immunol 1999(4): 2180-3 [PubMed abstract].

    1998

  • Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.
    Inoue N, Saito T, Masuda R, Suzuki Y, Ohtomi M, Sakiyama H
    Hum Genet 1998(4): 415-8 [PubMed abstract].