Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.
Bhat
Swati
S
Williams
Emma L
EL
Rumsby
Gill
G
D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D005786:Gene Expression Regulation / Q000235:genetics*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000235:genetics*; D020407:Internet; D007962:Leukocytes / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009928:Organ Specificity; D011110:Polymorphism, Genetic / Q000235:genetics*
D018076:DNA, Complementary; D000429:Alcohol Oxidoreductases; C020830:glyoxylate reductase