Article
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jun 2010
Heidet Laurence, Decramer Stéphane, Pawtowski Audrey, Morinière Vincent, Bandin Flavio, Knebelmann Bertrand, Lebre Anne-Sophie, Faguer Stanislas, Guigonis Vincent, Antignac Corinne, Salomon Rémi
Abstract excerpt
BACKGROUND AND OBJECTIVES: Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is critical for the development of kidney and pancreas. In humans, mutations in HNF1B lead to congenital anomalies of the kidney and urinary tract, pancreas atrophy, and maturity-onset diabetes of the young type 5 and genital malformations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We report HNF1B screening...
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