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DerechosPreviewFecha Public.TítuloAutor(es)Tipo
openAccessoct-2016Database of complement gene variants: a comprehensive database providing insights on function, structure and allele frequency for genetic variants identified in complement-mediated diseasesOsborne, Amy J.; Rodríguez de Córdoba, Santiago ; Fremeaux-Bacchi, Veronique; Noris, Marina; Smith, Richard; van den Heuvel, Bert; Goodship, Timothy H.J.; Perkins, Stephencomunicación de congreso
closedAccessrestringido.pdf.jpgene-2018Factor H competitor generated by gene conversion events associates with atypical hemolytic uremic syndromeGoicoechea de Jorge, Elena CSIC ORCID; Tortajada, Agustín CSIC ORCID; Pinto, Sheila CSIC; Gastoldi, Sara; Martín Merinero, Héctor CSIC ORCID; García-Fernández, Jesús CSIC ; Arjona, Emilia CSIC ORCID ; Cao, Mercedes; Remuzzi, Giuseppe; Noris, Marina; Rodríguez de Córdoba, Santiago artículo
openAccessoct-2016Prevalent FHR-1 mutant protein generated by gene conversion reveals crucial role of factor H polymorphisms in atypical Hemolytic Uremic Syndrome (aHUS)Tortajada, Agustín CSIC ORCID; Pinto, Sheila CSIC; Gastoldi, Sara; García-Fernández, Jesús CSIC ; Merinero, Hector; Arjona, Emilia CSIC ORCID ; Noris, Marina; Rodríguez de Córdoba, Santiago comunicación de congreso
openAccess2008_Martinez-Barricarte et al_JASN.pdf.jpgmar-2008The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndromeMartínez-Barricarte, Rubén CSIC; Pianetti, Gaia; Gautard, Ruxandra; Misselwitz, Joachim; Strain, Lisa; Fremeaux-Bacchi, Veronique; Skerka, Christine; Zipfel, Peter F.; Goodship, Timothy H.J.; Noris, Marina; Remuzzi, Giuseppe; Rodríguez de Córdoba, Santiago artículo