Journal article icon

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1210/jc.2002-021973

Authors


Expand authors...
Journal:
The Journal of clinical endocrinology and metabolism
Volume:
88
Issue:
3
Pages:
1398-1401
Publication date:
2003-03-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:8c62bb54-fc94-4ff9-b997-92b8f48c700a
Source identifiers:
18654
Local pid:
pubs:18654

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP