A Novel Pattern of Mutation in Uromodulin Disorders: Autosomal Dominant Medullary Cystic Kidney Disease Type 2, Familial Juvenile Hyperuricemic Nephropathy, and Autosomal Dominant Glomerulocystic Kidney Disease
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference27 articles.
1. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease;Christodoulou;Hum Mol Genet,1998
2. Identification of a new locus for medullary cystic kidney disease, on chromosome 16p12;Scolari;Am J Hum Genet,1999
3. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2;Dahan;J Am Soc Nephrol,2001
4. Mutations of the UMOD gene are responsible for medullary cystic kidney disesase 2 and familial juvenile hyperuricaemic nephropathy;Hart;J Med Genet,2002
5. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin;Dahan;J Am Soc Nephrol,2003
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