Margarita López‐Trascasa

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

Elena Goicoechea de Jorge, Claire L. Harris, Jorge Esparza-Gordillo et al. · Proceedings of the National Academy of Sciences · 2006 · 443 citations · Full text

Immunohematology, Genetics, Complement Factor B +17

Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome

David Pérez-Caballero, Carolina González-Rubio, M. Esther Gallardo et al. · The American Journal of Human Genetics · 2001 · 289 citations · Full text

Missense Mutations, Urology, C-terminal Region +10

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

Jorge Esparza-Gordillo, Elena Goicoechea de Jorge, Alfonso Buil et al. · Human Molecular Genetics · 2005 · 280 citations

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

Rubén Martínez-Barricarte, Meike Heurich, Francisco Valdés-Cañedo et al. · Journal of Clinical Investigation · 2010 · 220 citations · Full text

Renal Pathology, Immunology, Renal Inflammation +26

Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

Pilar Sánchez‐Corral, David Pérez-Caballero, Olatz Huarte et al. · The American Journal of Human Genetics · 2002 · 216 citations · Full text

Urology, Genetic Disorder, Genetics +7