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Journal Abstract Search

129 related items for PubMed ID: 22170528

  • 21. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
    Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, Rodriguez de Cordoba S, Zipfel PF, Goodship TH.
    Hum Mutat; 2006 Mar; 27(3):292-3. PubMed ID: 16470555
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  • 22. Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
    Valoti E, Alberti M, Iatropoulos P, Piras R, Mele C, Breno M, Cremaschi A, Bresin E, Donadelli R, Alizzi S, Amoroso A, Benigni A, Remuzzi G, Noris M.
    Front Immunol; 2019 Mar; 10():853. PubMed ID: 31118930
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  • 23. Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.
    Feng S, Eyler SJ, Zhang Y, Maga T, Nester CM, Kroll MH, Smith RJ, Afshar-Kharghan V.
    Blood; 2013 Aug 22; 122(8):1487-93. PubMed ID: 23847193
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  • 24. Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS).
    Roumenina LT, Roquigny R, Blanc C, Poulain N, Ngo S, Dragon-Durey MA, Frémeaux-Bacchi V.
    Methods Mol Biol; 2014 Aug 22; 1100():237-47. PubMed ID: 24218264
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  • 33. Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndrome.
    Tsuchida M, Goto S, Watanabe H, Goto S, Yamaguchi H, Narita I.
    Mol Genet Genomic Med; 2024 Jan 22; 12(1):e2288. PubMed ID: 37795781
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  • 36. Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome.
    Hakobyan S, Tortajada A, Harris CL, de Córdoba SR, Morgan BP.
    Kidney Int; 2010 Oct 22; 78(8):782-8. PubMed ID: 20703214
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  • 40. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
    Chaudhary P, Hepgur M, Sarkissian S, Smith RJ, Weitz IC.
    Blood Transfus; 2014 Jan 22; 12(1):111-3. PubMed ID: 24333077
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