Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified nontruncating PKD1 mutations in approximately 30% of patients who underwent comprehensive mutation screening, but the clinical sign...

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Podrobná bibliografie
Vydáno v:J Am Soc Nephrol
Hlavní autoři: Hwang, Young-Hwan, Conklin, John, Chan, Winnie, Roslin, Nicole M., Liu, Jannel, He, Ning, Wang, Kairong, Sundsbak, Jamie L., Heyer, Christina M., Haider, Masoom, Paterson, Andrew D., Harris, Peter C., Pei, York
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2016
Témata:
Clinical Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4884120/
https://ncbi.nlm.nih.gov/pubmed/26453610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015060648
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