نتایج جستجو برای: uromodulin
تعداد نتایج: 340 فیلتر نتایج به سال:
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. We here described a novel heterozygous missense m...
Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive renal failure at an early age. Using a genomewide linkage analysis in three Czech affected families, we have identified, on chromosome 16p11.2, a locus for FJHN and have found evidence for genetic heterogeneity and reduced ...
Sir, In their letter to the Editor, Drs Bleyer and Hart raised several aspects concerning familial juvenile hyperuricaemic nephropathy (FJHN). First, they state that in QJM letter of February 2003, we wrote that ‘ . . . an unresolved aspect of FJHN is the gene defect’, despite their having reported a mutation in the uromodulin gene (UMOD, the gene encoding the Tamm-Horsfall/uromodulin protein) ...
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