Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I

Clinica Chimica Acta

Volumn 413, Issue 1-2, 2012, Pages 93-99

  Stiburkova, Blanka ^a   Krijt, Jakub ^a   Vyletal, Petr ^a,b   Bartl, Josef ^a   Gerhatova, Eva ^c   Korinek, Martin ^d   Sebesta, Ivan ^a,e  

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

^b CHARLES UNIVERSITY   (Czech Republic)

^c GENERI BIOTECH   (Czech Republic)

^d UNIVERSITY OF HRADEC KRALOVE   (Czech Republic)

^e CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Hypouricemia; Xanthine dehydrogenase oxidase; Xanthinuria

Indexed keywords

ALLOPURINOL; CREATININE; TAMM HORSFALL GLYCOPROTEIN; URIC ACID; XANTHINE; XANTHINE DEHYDROGENASE; XANTHINE OXIDASE;

ADULT; ARTICLE; BIOCHEMISTRY; CASE REPORT; CONSANGUINITY; CREATININE URINE LEVEL; CZECH REPUBLIC; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; FAMILY STUDY; FEMALE; GENE; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPOURICEMIA; LOADING TEST; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; URIC ACID BLOOD LEVEL; URINARY EXCRETION; URINE LEVEL; XANTHINE DEHYDROGENASE GENE; XANTHINE OXIDASE BLOOD LEVEL; XANTHINURIA;

ADULT; BASE SEQUENCE; BLOTTING, WESTERN; CZECH REPUBLIC; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; URIC ACID; XANTHINE; XANTHINE DEHYDROGENASE; XANTHINE OXIDASE;

EID: 82955233127     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.08.038     Document Type: Article

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