Journal article
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
- Abstract:
-
Gout, which is commonly associated with hyperuricemia, affects 0.2% of the population. Hyperuricemia has a heterogeneous etiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we undertook positional cloning studies of familial juvenile hyperuricaemic nephropathy (FJHN), which is an autosomal dominant disorder characterized by hyperuricaemia, a low fractional renal excretion of ura...
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- Publication status:
- Published
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- Publisher copy:
- 10.1210/jc.2002-021973
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Bibliographic Details
- Journal:
- Journal of clinical endocrinology and metabolism
- Volume:
- 88
- Issue:
- 3
- Pages:
- 1398-1401
- Publication date:
- 2003-03-01
- DOI:
- EISSN:
-
1945-7197
- ISSN:
-
0021-972X
- Source identifiers:
-
18654
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:18654
- UUID:
-
uuid:8c62bb54-fc94-4ff9-b997-92b8f48c700a
- Local pid:
- pubs:18654
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2003
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