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Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

Abstract:

Familial juvenile hyperuricemic nephropathy (FJHN), which is inherited as an autosomal dominant disorder, is characterized by hyperuricemia, a low fractional renal excretion of urate, and chronic renal failure that is associated with interstitial fibrosis. Studies in 4 families (3 European and 1 Japanese) have mapped the gene causing autosomal dominant FJHN to chromosome 16p11-p13. To refine this location we have pursued linkage studies in 7 European families with autosomal dominant FJHN and ...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2002-021268

Authors


Stacey, JM More by this author
Turner, JJ More by this author
Harding, B More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Kotanko, P More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
88
Issue:
1
Pages:
464-470
Publication date:
2003-01-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:9218f222-62a9-4290-8922-5964ca4062c7
Source identifiers:
18246
Local pid:
pubs:18246

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