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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2013
Témata:
Clinical Research
On-line přístup: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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