Article
The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.
Diabetes research and clinical practice - 1 Nov 2017
Sagen J V, Bjørkhaug L, Haukanes B I, Grevle L, Molnes J, Nedrebø B G, Søvik O, Njølstad P R, Johansson S, Molven A
Abstract excerpt
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped...
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