An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molec...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Eisenberger, Tobias, Decker, Christian, Hiersche, Milan, Hamann, Ruben C., Decker, Eva, Neuber, Steffen, Frank, Valeska, Bolz, Hanno J., Fehrenbach, Henry, Pape, Lars, Toenshoff, Burkhard, Mache, Christoph, Latta, Kay, Bergmann, Carsten
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4315576/
https://ncbi.nlm.nih.gov/pubmed/25646624
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0116680
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