A case of familial Juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea

Journal of Korean Medical Science

Volumn 25, Issue 11, 2010, Pages 1680-1682

  Lee, Dong Hun ^a   Kim, Jin Kyung ^a   Oh, Sook Eui ^a   Noh, Jung Woo ^a   Lee, Young Ki ^a  

^a Hallym University College of Medicine   (South Korea)

Author keywords

Hyperuricemia; Mutation; Tamm horsfall protein

Indexed keywords

TAMM HORSFALL GLYCOPROTEIN; URIC ACID;

ADOLESCENT; ARTICLE; ASIAN; BLOOD; CASE REPORT; CHROMOSOME 16; CHRONIC DISEASE; DOMINANT GENE; GENETICS; HETEROZYGOTE; HUMAN; HYPERURICEMIA; KIDNEY DISEASE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SOUTH KOREA;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 16; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYPERURICEMIA; KIDNEY DISEASES; MALE; MUTATION, MISSENSE; PEDIGREE; REPUBLIC OF KOREA; URIC ACID; UROMODULIN;

EID: 78449270818     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.11.1680     Document Type: Article

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