Novel glucokinase gene mutation in the first Macedonian family tested for MODY

作者：Kocova M^*; Elblova L; Pruhova S; Lebl J; Dusatkova P

来源：Diabetes Research and Clinical Practice, 2017, 130: 86-89.

DOI：10.1016/j.diabres.2017.04.001

• GCK-MODY
• GCK mutation
• Mild hyperglycemia

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.

• 出版日期2017-8