Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families

Kidney International

Volumn 65, Issue 5, 2004, Pages 1589-1597

  Kudo, Eiji ^a   Kamatani, Naoyuki ^b   Tezuka, Osamu ^b   Taniguchi, Atsuo ^b   Yamanaka, Hisashi ^b   Yabe, Sachiko ^b   Osabe, Dai ^b   Shinohara, Syuichi ^b   Nomura, Kyoko ^b   Segawa, Masaya ^b   Miyamoto, Tatsuro ^b   Moritani, Maki ^b   Kunika, Kiyoshi ^b   Itakura, Mitsuo ^b  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b NONE

Author keywords

Familial juvenile hyperuricemic nephropathy; FJHN; Glycoprotein 2; Linkage analysis; Tamm horsfall protein; Uromodulin

Indexed keywords

CYSTEINE; LEUCINE; MARKER; NUCLEAR FACTOR I; PHENYLALANINE; PROLINE; SERINE; TAMM HORSFALL GLYCOPROTEIN; TRYPTOPHAN; UNCLASSIFIED DRUG; URATE; URATE TRANSPORTER 1;

AMINO ACID SUBSTITUTION; CHROMOSOME 16P; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC PROCEDURES; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERURICEMIA; JAPAN; KIDNEY DISEASE; MALE; MEDULLARY SPONGE KIDNEY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM;

EID: 2342453842     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00559.x     Document Type: Conference Paper

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