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Article

Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

9 Oct 2014

Abstract excerpt

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...

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PMID: 25296721
DOI: 10.1681/asn.2014040388

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