Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
Wabitsch, M
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
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