Article
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
Annals of internal medicine - 6 Apr 2004
Bellanné-Chantelot Christine, Chauveau Dominique, Gautier Jean-François, Dubois-Laforgue Danièle, Clauin Séverine, Beaufils Sandrine, Wilhelm Jean-Marie, Boitard Christian, Noël Laure-Hélène, Velho Gilberto, Timsit José
Abstract excerpt
BACKGROUND: Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene, mostly generating truncated protein. Various phenotypes, including urogeni...
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