1.
Diabetes Res Clin Pract
; 83(3): e72-4, 2009 Mar.
Article
in English
| MEDLINE
| ID: mdl-19150152
ABSTRACT
Analysis of GCK and HNF1A genes in 32 MODY families identified three novel mutations: the missense mutation G170D and the deletion/insertion P432Xfs in GCK and the splicing mutation IVS4nt-1G>T, in HNF1A. For IVS4nt-1G>T the sequence analysis of RT-PCR products demonstrated exon skipping with the use of a cryptic splicing site.