Article
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
The Journal of clinical endocrinology and metabolism - 1 Mar 2003
Turner J J O, Stacey J M, Harding B, Kotanko P, Lhotta K, Puig J G, Roberts I, Torres R J, Thakker R V
Abstract excerpt
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...
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