Article
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Diabetes - 1 Apr 1997
Hansen T, Eiberg H, Rouard M, Vaxillaire M, Møller A M, Rasmussen S K, Fridberg M, Urhammer S A, Holst J J, Almind K, Echwald S M, Hansen L, Bell G I, Pedersen O
Abstract excerpt
One form of maturity-onset diabetes of the young (MODY3) results from mutations in the hepatocyte nuclear factor (HNF)-1alpha gene, located on chromosome 12q24.2. The primary objective of the present study was to search for genetic variation in the HNF-1alpha gene in nine nonrelated Danish Caucasian subjects with MODY. Direct sequencing of the coding region and intron-exon boundaries of the HNF-1alpha gene...
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