1.
Diabetes Res Clin Pract
; 130: 86-89, 2017 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28575730
RESUMO
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.