Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference24 articles.
1. Mutations of the uromodulin gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;Hart;J Med Genet,2002
2. Uromodulin mutations cause familial juvenile hyperuricemic nephropathy;Turner;J Clin Endocrinol Metab,2003
3. Renal manifestations of a mutation in the uromodulin (Tamm Horsfall Protein) gene;Bleyer;Am J Kidney Dis,2003
4. A cluster of mutations in the uromodulin gene cause familial juvenile hyperuricemic nephropathy with abnormal excretion of uromodulin;Dahan;J Am Soc Nephrol,2003
5. Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes 3 EGF-like domains;Wolf;Kidney Int,2003
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