A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
Takayama
Tatsuya
T
Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157, USA. ttakayam@hama-med.ac.jp
Nagata
Masao
M
Ozono
Seiichiro
S
Nonomura
Katsuya
K
Cramer
Scott D
SD
D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics* / Q000502:physiology*; D001483:Base Sequence; D005786:Gene Expression Regulation; D005822:Genetic Vectors; D005838:Genotype; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics*; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype
D000429:Alcohol Oxidoreductases; C020830:glyoxylate reductase