A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

BMC Medical Genetics

Volumn 6, Issue , 2005, Pages

  Calado, Joaquim ^a   Gaspar, Augusta ^b   Clemente, Carla ^c   Rueff, José ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b SANTA CRUZ HOSPITAL   (Portugal)

^c STAB GENÓMICA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

TAMM HORSFALL GLYCOPROTEIN; MUCOPROTEIN; UMOD PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; DIAGNOSTIC TEST; EXON; FAMILIAL DISEASE; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FEMALE; GENE SEQUENCE; GOUT; HETEROZYGOTE; HUMAN; HUMAN GENOME; HYPERURICEMIA; INTERSTITIAL NEPHRITIS; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; UMOD GENE; DOMINANT GENE; GENETICS; MIDDLE AGED;

FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYPERURICEMIA; KIDNEY DISEASES; MIDDLE AGED; MUCOPROTEINS; MUTATION, MISSENSE; UROMODULIN;

EID: 26444591591     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-6-5     Document Type: Article

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