Nephrol Dial Transplant. 2007 Aug;22(8):2371-4. Epub 2007 May 17.

A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.

Takayama T, Nagata M, Ozono S, Nonomura K, Cramer SD.

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Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157, USA. ttakayam@hama-med.ac.jp

PMID:: 17510093; [PubMed - indexed for MEDLINE]
PMCID:: PMC2413148

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Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. [J Urol. 2009]
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.
Levin-Iaina N, Dinour D, Romero L, Ron R, Brady RL, Cramer SD, Holtzman EJ. J Urol. 2009 May; 181(5):2146-51. Epub 2009 Mar 17.
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. [Clin Chem. 2005]
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.
Bhat S, Williams EL, Rumsby G. Clin Chem. 2005 Dec; 51(12):2423-5.
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. [Hum Mutat. 2003]
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
Cregeen DP, Williams EL, Hulton S, Rumsby G. Hum Mutat. 2003 Dec; 22(6):497.
Review Molecular aetiology of primary hyperoxaluria and its implications for clinical management. [Expert Rev Mol Med. 2004]
Review Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
Danpure CJ, Rumsby G. Expert Rev Mol Med. 2004 Jan 9; 6(1):1-16. Epub 2004 Jan 9.
Review An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. [Urol Res. 2005]
Review An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
Rumsby G. Urol Res. 2005 Nov; 33(5):318-20. Epub 2005 Oct 6.

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