ID-bases-logo
- databases for immunodeficiency-causing variations

   C5base
   Variation registry for  C5 deficiency


C5base mutation publications

[2009] [2005] [1995]

Search PubMed latest citations for C5 mutations

    2009

  • Molecular characterization of three new mutations causing C5 deficiency in two non-related families.
    López-Lera A, Garrido S, de la Cruz RM, Fontán G, López-Trascasa M
    Mol Immunol 2009(11-12): 2340-7 [PubMed abstract].

    2005

  • Linking C5 deficiency to an exonic splicing enhancer mutation.
    Pfarr N, Prawitt D, Kirschfink M, Schroff C, Knuf M, Habermehl P, Mannhardt W, Zepp F, Fairbrother WG, Fairbrother W, Loos M, Burge CB, Pohlenz J
    J Immunol 2005(7): 4172-7 [PubMed abstract].

    1995

  • Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.
    Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA
    J Immunol 1995(10): 5464-71 [PubMed abstract].