Semih Bolu, RECEP EROZ, Mustafa Doğan, İlknur Arslanoğlu, Hakan Uzun, Furkan Timur

Kalıcı neonatal diabetes mellitusun nadir bir nedeni olan glukokinaz geninde yeni homozigot delesyon mutasyonu saptanan aile (c.1255delT; p.Phe419Serfs * 12

A family with novel homozygous deletion mutation(c.1255delT; p.Phe419Serfs*12) in the glucokinasegene, which is a rare cause of permanent neonataldiabetes mellitus

Türk Pediatri Arşivi

2020-Cilt: 55 - Sayı: 4

434-437

49 70