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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2013
Assuntos:
Clinical Research
Acesso em linha: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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