Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 430-435

  Stiburkova, Blanka ^a   Ichida, Kimiyoshi ^c   Sebesta, Ivan ^a,b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b Institute of Clinical Biochemistry   (Czech Republic)

^c TOKYO UNIVERSITY OF PHARMACY AND LIFE SCIENCES   (Japan)

Author keywords

Renal hypouricemia; SLC2A9; Uric acid transporter

Indexed keywords

CARRIER PROTEIN; GENOMIC DNA; PROTEIN SLC2A9; UNCLASSIFIED DRUG; URIC ACID;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; HOMOZYGOTE; HUMAN; HYPOURICEMIA; KIDNEY DISEASE; KIDNEY HYPOURICEMIA; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL;

ADOLESCENT; BASE SEQUENCE; CASE-CONTROL STUDIES; FEMALE; GENETIC ASSOCIATION STUDIES; GLOMERULAR FILTRATION RATE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HOMOZYGOTE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; PEDIGREE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; SEQUENCE ANALYSIS, DNA; URIC ACID; URINARY CALCULI; YOUNG ADULT;

EID: 79952622269     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.12.016     Document Type: Article

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