Article
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Clinical endocrinology - 1 Jun 2017
Martínez Rosa, Gutierrez-Nogués Ángel, Fernández-Ramos Concepción, Velayos Teresa, Vela Amaia, Navas María-Ángeles, Castaño Luis
Abstract excerpt
BACKGROUND: Mutations in the GCK gene lead to different forms of glucokinase (GCK)-disease, activating mutations cause hyperinsulinaemic hypoglycaemia while inactivating mutations cause monogenic diabetes. Hyperinsulinism (HI) is a heterogeneous condition with a significant genetic component. The major causes are channelopathies, the other forms are rare and being caused by mutations in genes such as GCK....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.