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The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR; European Working Party on the Genetics of HUS. Martinez-Barricarte R, et al. Among authors: goodship t. J Am Soc Nephrol. 2008 Mar;19(3):639-46. doi: 10.1681/ASN.2007080923. Epub 2008 Jan 30. J Am Soc Nephrol. 2008. PMID: 18235085 Free PMC article.
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.
Schramm EC, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C, Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJ, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V. Schramm EC, et al. Among authors: goodship t. Blood. 2015 Apr 9;125(15):2359-69. doi: 10.1182/blood-2014-10-609073. Epub 2015 Jan 21. Blood. 2015. PMID: 25608561 Free PMC article.
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.
Complement factor H and the hemolytic uremic syndrome.
Atkinson JP, Goodship TH. Atkinson JP, et al. J Exp Med. 2007 Jun 11;204(6):1245-8. doi: 10.1084/jem.20070664. Epub 2007 Jun 4. J Exp Med. 2007. PMID: 17548524 Free PMC article. Review.
204 results