TY - JOUR AU - Hakobyan, Svetlana AU - Tortajada Alonso, Agustín AU - Harris, Claire L. AU - de Cordoba, Santiago R. AU - Morgan, Bryan P. PY - 2010 DO - 10.1038/ki.2010.275 UR - https://hdl.handle.net/20.500.14352/114423 T2 - KIDNEY INTERNATIONAL AB - Atypical hemolytic uremic syndrome (aHUS) is associated with complement alternative pathway defects in over half the cases. Point mutations that affect complement surface regulation are common in factor H (CFH); however, sometimes individuals have... LA - eng M2 - 782 PB - Elsevier KW - Factor H del complemento / KW - Predisposición genética a la enfermedad KW - Genotipo KW - Síndrome hemolítico urémico TI - Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome TY - journal article VL - 78 ER -