Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD). The...

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Autors principals: Bergmann, Carsten, von Bothmer, Jennifer, Ortiz Brüchle, Nadina, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antónia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard, Zerres, Klaus
Format: Artigo
Idioma:Inglês
Publicat: American Society of Nephrology 2011
Matèries:
Basic Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3279997/
https://ncbi.nlm.nih.gov/pubmed/22034641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2010101080
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