CFPbase mutation publications [2000] [1999] [1997] [1995] [1989] [1988] [1987] [1982] [ ] Search PubMed latest citations for CFP mutations 2000 Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM Eur J Hum Genet 2000(7): 513-8 [PubMed abstract]. 1999 Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n). Späth PJ, Sjöholm AG, Fredrikson GN, Misiano G, Scherz R, Schaad UB, Uhring-Lambert B, Hauptmann G, Westberg J, Uhlén M, Wadelius C, Truedsson L Clin Exp Immunol 1999(2): 278-84 [PubMed abstract]. 1997 Human properdin deficiency has a heterogeneous genetic background. Truedsson L, Westberg J, Fredrikson GN, Sjöholm AG, Kuijper EJ, Fijen CA, Späth PJ, Uhlén M Immunopharmacology 1997(1-2): 203-6 [PubMed abstract]. 1995 Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. Westberg J, Fredrikson GN, Truedsson L, Sjöholm AG, Uhlén M Genomics 1995(1): 1-8 [PubMed abstract]. 1989 Another Swedish family with complete properdin deficiency: association with fulminant meningococcal disease in one male family member. Söderström C, Sjöholm AG, Svensson R, Ostenson S Scand J Infect Dis 1989(3): 259-65 [PubMed abstract]. 1988 A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. Sjöholm AG, Söderström C, Nilsson LA Complement 1988(3): 130-40 [PubMed abstract]. 1987 Congenital properdin deficiency and meningococcal infection. Nielsen HE, Koch C Clin Immunol Immunopathol 1987(2): 134-9 [PubMed abstract]. 1982 Properdin deficiency in a family with fulminant meningococcal infections. Sjöholm AG, Braconier JH, Söderström C Clin Exp Immunol 1982(2): 291-7 [PubMed abstract]. Properdin deficiency: molecular basis and disease association. Fijen CA, van den Bogaard R, Schipper M, Mannens M, Schlesinger M, Nordin FG, Dankert J, Daha MR, Sjöholm AG, Truedsson L, Kuijper EJ Mol Immunol (13-14): 863-7 [PubMed abstract].