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Journal article

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

Abstract:

Familial juvenile hyperuricaemic (gouty) nephropathy (FJHN), is an autosomal dominant disease associated with a reduced fractional excretion of urate, and progressive renal failure. FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively. However, UMOD, REN or HNF-1β mutations are found in only ~45% of FJHN probands, indicating the involvement of oth...

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Publisher copy:
10.1007/s00439-010-0897-1

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Journal:
Human Genetics
Volume:
129
Issue:
1
Pages:
51-58
Publication date:
2011-01-05
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
URN:
uuid:fcbb0fb4-08e6-4267-8455-07e1b4e04056
Source identifiers:
112691
Local pid:
pubs:112691
Language:
English

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