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- databases for immunodeficiency-causing variations

   C1QAbase
   Variation registry for  C1q α polypeptide deficiency


C1QAbase mutation publications

[2004] [1997] [1995]

Search PubMed latest citations for C1QA mutations

    2004

  • Hereditary C1q deficiency and secondary Sjögren's syndrome.
    Hoppenreijs EP, van Dijken PJ, Kabel PJ, Th Draaisma JM
    Ann Rheum Dis 2004(11): 1524-5 [PubMed abstract].

    1997

  • Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis.
    Petry F, Berkel AI, Loos M
    Hum Genet 1997(1): 51-6 [PubMed abstract].

    1995

  • Non-sense and missense mutations in the structural genes of complement component C1q A and C chains are linked with two different types of complete selective C1q deficiencies.
    Petry F, Le DT, Kirschfink M, Loos M
    J Immunol 1995(10): 4734-8 [PubMed abstract].