TY  - GEN
AU  - Dahan,Karin
AU  - Devuyst,Olivier
AU  - Smaers,Michèle
AU  - Vertommen,Didier
AU  - Loute,Guy
AU  - Poux,Jean-Michel
AU  - Viron,Béatrice
AU  - Jacquot,Christian
AU  - Gagnadoux,Marie-France
AU  - Chauveau,Dominique
AU  - Büchler,Mathias
AU  - Cochat,Pierre
AU  - Cosyns,Jean-Pierre
AU  - Mougenot,Béatrice
AU  - Rider,Mark H
AU  - Antignac,Corinne
AU  - Verellen-Dumoulin,Christine
AU  - Pirson,Yves
TI  - A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
SN  - 1046-6673
PY  - 2004///0408
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Humans
KW  - Hyperuricemia
KW  - Kidney Failure, Chronic
KW  - Loop of Henle
KW  - metabolism
KW  - Male
KW  - Middle Aged
KW  - Mucoproteins
KW  - Multigene Family
KW  - Mutation
KW  - Pedigree
KW  - Uromodulin
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1097/01.asn.0000092147.83480.b5
ER  -