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A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.
Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH. Blom AM, et al. Among authors: kavanagh d. J Immunol. 2008 May 1;180(9):6385-91. doi: 10.4049/jimmunol.180.9.6385. J Immunol. 2008. PMID: 18424762
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.
Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Fremeaux-Bacchi V, et al. Among authors: kavanagh d. J Am Soc Nephrol. 2006 Jul;17(7):2017-25. doi: 10.1681/ASN.2005101051. Epub 2006 Jun 8. J Am Soc Nephrol. 2006. PMID: 16762990
Atypical haemolytic uraemic syndrome.
Kavanagh D, Goodship TH, Richards A. Kavanagh D, et al. Br Med Bull. 2006;77-78:5-22. doi: 10.1093/bmb/ldl004. Epub 2006 Sep 11. Br Med Bull. 2006. PMID: 16968692 Review.
681 results