A Cluster of Mutations in the UMOD Gene Causes Familial Juvenile Hyperuricemic Nephropathy with Abnormal Expression of Uromodulin

Journal of the American Society of Nephrology

Volumn 14, Issue 11, 2003, Pages 2883-2893

  Dahan, Karin ^a   Devuyst, Olivier ^a   Smaers, Michèle ^a   Vertommen, Didier ^a   Loute, Guy ^c   Poux, Jean Michel ^d   Viron, Béatrice ^e   Jacquot, Christian ^f   Gagnadoux, Marie France ^g   Chauveau, Dominique ^g   Büchler, Mathias ^h   Cochat, Pierre ⁱ   Cosyns, Jean Pierre ^a   Mougenot, Béatrice ^j   Rider, Mark H ^b   Antignac, Corinne ^k   Verellen Dumoulin, Christine ^a   Pirson, Yves ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b International Institute of Cellular and Molecular Pathology   (Belgium)

^c Department of Nephrology   (Belgium)

^d Department of Nephrology   (France)

^e BICHAT HOSPITAL   (France)

^f HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h UNIVERSITY HOSPITAL OF TOURS   (France)

ⁱ EDOUARD HERRIOT HOSPITAL   (France)

^j HÔPITAL TENON   (France)

^k UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TAMM HORSFALL GLYCOPROTEIN; URATE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FEMALE; GENE CLUSTER; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERURICEMIA; IMMUNOHISTOCHEMISTRY; INTERSTITIAL NEPHRITIS; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; MALE; MEDULLARY SPONGE KIDNEY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; UMOD GENE; URINARY EXCRETION;

EID: 10744226387     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000092147.83480.B5     Document Type: Article

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