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Research Highlights
Nature Reviews Nephrology 3, 466–467 (1 September 2007) | doi:10.1038/ncpneph0546
Whole-gene sequencing for diagnosis of type 1 primary hyperoxaluria
Abstract
Monico CG et al. (2007) Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 18: 1905–1914 Type 1 primary hyperoxaluria (PH1), a rare inherited metabolic disorder, causes kidney stones and kidney damage or failure.
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