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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.
The non-muscle Myosin heavy chain 9 gene (MYH9) is not associated with lupus nephritis in African Americans.
Improving the recognition of hereditary interstitial kidney disease.
Uromodulin biology and pathophysiology--an update.
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Uromodulin biology and pathophysiology--an update.
Vyletal P, Bleyer AJ, Kmoch S. Uromodulin biology and pathophysiology--an update. Kidney Blood Press Res. 2010; 33(6):456-75.
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PubMed
subject areas
Animals
Humans
Hyperuricemia
Kidney Diseases
Mutation
authors with profiles
Anthony J. Bleyer MD, MS