The importance of quantifying genetic heterogeneity in ADPKD.
editorial · Level V
Where this comes from
- Record sourced from PubMed, PMID 24487363.
- Also identified by DOI 10.1038/ki.2013.371 and PMC identifier 3914150.
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Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. New data from Paul et al. suggest that mutations in the PKD1 and PKD2 genes may account for all cases of ADPKD. Further improvements in mutation detection methodologies are needed to determine the true relative frequency of PKD1 versus PKD2 as well as to establish the value of mutation type and location to predict disease severity in this disorder.
Medical subject headings
- Genetic Loci
- Mutation
- Polycystic Kidney, Autosomal Dominant
- TRPP Cation Channels