Original paper
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
Volume: 26, Issue: 3, Pages: 543 - 551
Published: Mar 1, 2015
Abstract
Nephrolithiasis is a prevalent condition with a high morbidity. Although dozens of monogenic causes have been identified, the fraction of single-gene disease has not been well studied. To determine the percentage of cases that can be molecularly explained by mutations in 1 of 30 known kidney stone genes, we conducted a high-throughput mutation analysis in a cohort of consecutively recruited patients from typical kidney stone clinics. The cohort...
Paper Details
Title
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis
Published Date
Mar 1, 2015
Volume
26
Issue
3
Pages
543 - 551
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Notes
History