Homozygosity for uromodulin disorders: FJHN and MCKD-type 2

Kidney International

Volumn 66, Issue 2, 2004, Pages 558-563

  Rezende Lima, Wânia ^a   Parreira, Kleber S ^a   García González, Miguel ^a   Riveira, Eva ^a   Banet, Julio F ^a   Lens, Xosé M ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

Homozygosity; MCKD type 2; Uromodulin

Indexed keywords

CYSTEINE; TAMM HORSFALL GLYCOPROTEIN; TYROSINE;

ADULT; ADULTHOOD; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EXON; FAMILIAL DISEASE; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERURICEMIA; KIDNEY DISEASE; KIDNEY FUNCTION; MALE; MEDULLARY SPONGE KIDNEY; ONSET AGE; PATHOGENESIS; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; SPAIN; SURVIVAL RATE; URINALYSIS; UROMODULIN DISORDER; WESTERN BLOTTING;

EID: 3242772184     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00774.x     Document Type: Article

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