Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. [electronic resource]
- Diabetic medicine : a journal of the British Diabetic Association Dec 2007
- 1393-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0742-3071
10.1111/j.1464-5491.2007.02285.x doi
Adolescent Adult Blood Glucose--analysis Child Congenital Hyperinsulinism--genetics Family Health Female Glucokinase--genetics Glucose Tolerance Test Humans Islets of Langerhans--enzymology KATP Channels--genetics Male Middle Aged Mutation, Missense Pedigree