Article
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.
Kidney international - 1 May 2004
Kudo Eiji, Kamatani Naoyuki, Tezuka Osamu, Taniguchi Atsuo, Yamanaka Hisashi, Yabe Sachiko, Osabe Dai, Shinohara Syuichi, Nomura Kyoko, Segawa Masaya, Miyamoto Tatsuro, Moritani Maki, Kunika Kiyoshi, Itakura Mitsuo
Abstract excerpt
BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disease characterized by hyperuricemia of underexcretion type, gout, and chronic renal failure. We previously reported linkage on chromosome 16p12 in a large Japanese family designated as family 1 in the present study. Recent reports on the discovery of mutations of the uromodulin (UMOD) gene in families with FJHN encouraged...
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