Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: Biochemical, genetics and functional analysis

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1067-1073

  Stiburkova, Blanka ^a   Sebesta, Ivan ^a,b   Ichida, Kimiyoshi ^c,d   Nakamura, Makiko ^c   Hulkova, Helena ^a   Krylov, Vladimir ^a,e   Kryspinova, Lenka ^a   Jahnova, Helena ^a,e  

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

^b CHARLES UNIVERSITY   (Czech Republic)

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

^d JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e CHARLES UNIVERSITY   (Czech Republic)

Author keywords

renal hypouricemia; SLC22A12; URAT1; uric acid transporters

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; URAT1 PROTEIN; URATE; URIC ACID;

ACUTE KIDNEY FAILURE; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CZECH REPUBLIC; ENDOPLASMIC RETICULUM; ETHNIC DIFFERENCE; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GEOGRAPHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPOURICEMIA; KIDNEY CYST; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; LOSS OF FUNCTION MUTATION; MALE; MFSD8 GENE; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; RENAL HYPOURICEMIA; SCHOOL CHILD; SEQUENCE ANALYSIS; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL; VISUAL DISORDER;

ABSORPTION; ACUTE KIDNEY INJURY; ADULT; ALLELES; ANIMALS; CHILD; CZECH REPUBLIC; ENDOPLASMIC RETICULUM; FEMALE; GENE FREQUENCY; GYPSIES; HETEROZYGOTE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; ORGANIC ANION TRANSPORTERS; ORGANIC CATION TRANSPORT PROTEINS; PEDIGREE; RENAL TUBULAR TRANSPORT, INBORN ERRORS; URIC ACID; URINARY CALCULI; XENOPUS;

EID: 84884587245     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.3     Document Type: Article

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