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Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.
Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, López-Trascasa M, Sánchez-Corral P, Morgan BP, Rodríguez de Córdoba S. Goicoechea de Jorge E, et al. Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. doi: 10.1073/pnas.0603420103. Epub 2006 Dec 20. Proc Natl Acad Sci U S A. 2007. PMID: 17182750 Free PMC article.
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.
Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, Carreras Berges L, López-Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S. Esparza-Gordillo J, et al. Hum Mol Genet. 2005 Mar 1;14(5):703-12. doi: 10.1093/hmg/ddi066. Epub 2005 Jan 20. Hum Mol Genet. 2005. PMID: 15661753
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. Gallardo ME, et al. Am J Hum Genet. 2001 Feb;68(2):334-46. doi: 10.1086/318202. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170888 Free PMC article.
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