Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype

Several abnormalities in complement genes reportedly contribute to atypical hemolytic uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are necessary for the disease to manifest. Here, we sought to describe genotype–phenotype correlations among patients with combined...

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Dades bibliogràfiques
Autors principals: Bresin, Elena, Rurali, Erica, Caprioli, Jessica, Sanchez-Corral, Pilar, Fremeaux-Bacchi, Veronique, Rodriguez de Cordoba, Santiago, Pinto, Sheila, Goodship, Timothy H.J., Alberti, Marta, Ribes, David, Valoti, Elisabetta, Remuzzi, Giuseppe, Noris, Marina
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2013
Matèries:
Clinical Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582207/
https://ncbi.nlm.nih.gov/pubmed/23431077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2012090884
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