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The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5.
Nephrol Dial Transplant. 2012.
PMID: 22391140
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, Olson JB, Bergstrahl EJ, Williams HJ, Haley WE, Frishberg Y, Milliner DS.
Monico CG, et al.
Clin J Am Soc Nephrol. 2011 Sep;6(9):2289-95. doi: 10.2215/CJN.02760311.
Clin J Am Soc Nephrol. 2011.
PMID: 21896830
Free PMC article.
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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y.
Belostotsky R, et al.
Am J Hum Genet. 2010 Sep 10;87(3):392-9. doi: 10.1016/j.ajhg.2010.07.023.
Am J Hum Genet. 2010.
PMID: 20797690
Free PMC article.
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A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.
Duzkale H, et al.
Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.
Clin Genet. 2013.
PMID: 24033266
Free PMC article.
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