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

• Published in: Nephrology, dialysis, transplantation Vol. 22; no. 8; pp. 2371 - 2374
• Main Authors: Takayama, Tatsuya, Nagata, Masao, Ozono, Seiichiro, Nonomura, Katsuya, Cramer, Scott D.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.08.2007; Oxford Publishing Limited (England)
• Subjects: Adult; Alcohol Oxidoreductases - genetics; Alcohol Oxidoreductases - physiology; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Associated diseases and complications; Base Sequence; Biological and medical sciences; Diabetes. Impaired glucose tolerance; Emergency and intensive care: renal failure. Dialysis management; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Errors of metabolism; Gene Expression Regulation; Genetic Vectors; Genotype; Humans; Hyperoxaluria, Primary - genetics; Intensive care medicine; Japan; Male; Medical sciences; Metabolic diseases; Miscellaneous hereditary metabolic disorders; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Mutation, Missense; Phenotype; Japan; phenotype; primary hyperoxaluria type2; hyperoxaluria; glyoxylate reductase/hydroxypyruvate reductase (GRHPR); genotype; Kidney disease; Human; Urinary system disease; Enzyme; Hemodialysis; Oxalate; Metabolic diseases; Genotype; Enzymopathy; Japanese; Genetic disease; Extrarenal dialysis; Phenotype; Renal failure; Hyperoxaluria; Oxidoreductases; Mutation; glyoxylate reductase/ hydroxypyruvate reductase (GRHPR); Reductase
• ISSN: 0931-0509; 1460-2385
• DOI: 10.1093/ndt/gfm271