The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2063-2069

  Cramer, Scott D ^a   Ferree, Patrick M ^a   Lin, Kai ^a   Milliner, Dawn S ^b   Holmes, Ross P ^a  

^a WAKE FOREST SCHOOL OF MEDICINE   (United States)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCERIC ACID; HYDROXYPYRUVATE REDUCTASE; OXALIC ACID; OXIDOREDUCTASE;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; EXON; EXPRESSED SEQUENCE TAG; GENE MUTATION; GENETIC COUNSELING; GENETIC TRANSFECTION; HUMAN; INTRON; KIDNEY CALCIFICATION; KIDNEY FAILURE; LIVER; MOLECULAR CLONING; MOLECULAR WEIGHT; MONOGENIC DISORDER; NEPHROLITHIASIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; OXALOSIS 1; PRIORITY JOURNAL; STOP CODON; URINARY EXCRETION;

ALCOHOL OXIDOREDUCTASES; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CODON; CONSENSUS SEQUENCE; COS CELLS; DNA, COMPLEMENTARY; EXONS; EXPRESSED SEQUENCE TAGS; GENES; HUMANS; HYDROXYPYRUVATE REDUCTASE; HYPEROXALURIA; LIVER; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; TRANSFECTION;

EID: 0032837155     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2063     Document Type: Article

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