Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis

BACKGROUND: Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in two separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 and 2, respectively. Studies of null Slc26a6 (−/−) mice have revealed a phenotype of hypero...

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Main Authors: Monico, Carla G., Weinstein, Adam, Jiang, Zhirong, Rohlinger, Audrey L., Cogal, Andrea G., Bjornson, Beth B., Olson, Julie B., Bergstralh, Eric J., Milliner, Dawn S., Aronson, Peter S.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710965/
https://ncbi.nlm.nih.gov/pubmed/18951670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.ajkd.2008.07.041
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