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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: de cordoba sr. 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.
Gain-of-function mutation in complement C2 protein identified in a patient with aHUS.
Urban A, Volokhina E, Felberg A, Stasiłojć G, Blom AM, Jongerius I, van den Heuvel L, Thiel M, Ołdziej S, Arjona E, de Córdoba SR, Okrój M. Urban A, et al. Among authors: de cordoba sr. J Allergy Clin Immunol. 2020 Oct;146(4):916-919.e11. doi: 10.1016/j.jaci.2020.02.014. Epub 2020 Feb 28. J Allergy Clin Immunol. 2020. PMID: 32113979 Free article. No abstract available.
Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.
Cruzado JM, de Córdoba SR, Melilli E, Bestard O, Rama I, Sánchez-Corral P, López-Trascasa M, Navarro I, Torras J, Gomà M, Grinyó JM. Cruzado JM, et al. Among authors: de cordoba sr. Am J Transplant. 2009 Jun;9(6):1477-83. doi: 10.1111/j.1600-6143.2009.02647.x. Epub 2009 May 20. Am J Transplant. 2009. PMID: 19459807 Free article.
48 results