Title: Novel glucokinase gene mutation in the first Macedonian family tested for MODY
Author: M. Kocova Author: L. Elblova Author: S. Pruhova Author: J. Lebl Author: P. Dusatkova
Abstract: We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY.
