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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Opis bibliograficzny
Główni autorzy: 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
Język:Inglês
Wydane: American Society of Nephrology 2013
Hasła przedmiotowe:
Clinical Research
Dostęp online: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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