نتایج جستجو برای: abcc8

تعداد نتایج: 478  

2016
Pınar Kocaay Zeynep Şiklar Sian Ellard Aydın Yagmurlu Emine Çamtosun Esra Erden Merih Berberoglu Sarah E. Flanagan

BACKGROUND Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at c...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید