Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease in midlife. The phenotypic spectrum, however, ranges from in utero onset to adequate renal function at old age. Recent pat...

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Bibliografiset tiedot
Päätekijät: Hopp, Katharina, Ward, Christopher J., Hommerding, Cynthia J., Nasr, Samih H., Tuan, Han-Fang, Gainullin, Vladimir G., Rossetti, Sandro, Torres, Vicente E., Harris, Peter C.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2012
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484456/
https://ncbi.nlm.nih.gov/pubmed/23064367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI64313
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