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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: American Society of Nephrology 2011
Schlagworte:
Basic Research
Online Zugang: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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