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- Title
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
- Authors
Hart, T C; Gorry, M C; Hart, P S; Woodard, A S; Shihabi, Z; Sandhu, J; Shirts, B; Xu, L; Zhu, H; Barmada, M M; Bleyer, A J
- Abstract
Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often definitive diagnosis is possible only after significant pathology has occurred. Genetic linkage studies have localised genes for both conditions to overlapping regions of chromosome 16p11-p13. These clinical and genetic findings suggest that these conditions may be allelic.
- Publication
Journal of medical genetics, 2002, Vol 39, Issue 12, p882
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.39.12.882