Article
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
American journal of human genetics - 1 Jan 2001
Bingham C, Bulman M P, Ellard S, Allen L I, Lipkin G W, Hoff W G, Woolf A S, Rizzoni G, Novelli G, Nicholls A J, Hattersley A T
Abstract excerpt
Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown. Mutations in the gene encoding hepatocyte nuclear factor (HNF)-1beta have been associated with early-onset diabetes and nondiabetic renal disease-particularly renal cystic disease. We investigated a possible role for...
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