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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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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
Language:
English
Keywords:
Pubs id:
pubs:18654
UUID:
uuid:8c62bb54-fc94-4ff9-b997-92b8f48c700a
Local pid:
pubs:18654
Deposit date:
2012-12-19

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