Dahan, Karin

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