A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. [electronic resource]
- Journal of the American Society of Nephrology : JASN Nov 2003
- 2883-93 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1046-6673
10.1097/01.asn.0000092147.83480.b5 doi
Adolescent Adult Child Child, Preschool DNA Mutational Analysis Exons--genetics Female Humans Hyperuricemia--genetics Kidney Failure, Chronic--genetics Loop of Henle--metabolism Male Middle Aged Mucoproteins--genetics Multigene Family--genetics Mutation--genetics Pedigree Uromodulin