Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. [electronic resource]
Producer: 20040319Description: 36-42 p. digitalISSN:- 0085-2538
- Adolescent
- Alleles
- Base Pairing -- genetics
- Chronic Disease
- Creatinine -- metabolism
- Female
- Gene Deletion
- Genes, Dominant
- Gout -- genetics
- Humans
- Hyperuricemia -- genetics
- Kidney -- pathology
- Kidney Diseases -- complications
- Kidney Failure, Chronic -- etiology
- Male
- Mucoproteins -- genetics
- Mutation
- Osmolar Concentration
- Uric Acid -- urine
- Urine -- chemistry
- Uromodulin
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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