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- databases for immunodeficiency-causing variations

   IGHMbase
   Variation registry for  μ heavy chain deficiency


IGHMbase mutation publications

[2007] [2002] [1996]

Search PubMed latest citations for IGHM mutations

    2007

  • Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.
    Ferrari S, Zuntini R, Lougaris V, Soresina A, Sourková V, Fiorini M, Martino S, Rossi P, Pietrogrande MC, Martire B, Spadaro G, Cardinale F, Cossu F, Pierani P, Quinti I, Rossi C, Plebani A
    Genes Immun 2007(4): 325-33 [PubMed abstract].

    2002

  • Clinical and molecular analysis of patients with defects in micro heavy chain gene.
    Lopez Granados E, Porpiglia AS, Hogan MB, Matamoros N, Krasovec S, Pignata C, Smith CI, Hammarstrom L, Bjorkander J, Belohradsky BH, Casariego GF, Garcia Rodriguez MC, Conley ME
    J Clin Invest 2002(7): 1029-35 [PubMed abstract].

    1996

  • Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
    Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trübel H, Pachman LM, Kitchingman GR, Campana D, Rohrer J, Conley ME
    N Engl J Med 1996(20): 1486-93 [PubMed abstract].