A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.
Department of Paediatric-Adolescent Endocrinology and Diabetes, Athens Medical Center, Athens, Greece; Third Department of Pediatrics, Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece. Electronic address: info@pedoendo.gr.
D T
DT
Papadimitriou
Genetic Diagnostic Network (GENDIA), Antwerp, Belgium.
P J
PJ
Willems
Medical School, University of Athens, Athens, Greece.
C
C
Bothou
Department of Pediatrics, Athens Medical Center, Athens, Greece.
T
T
Karpathios
Third Department of Pediatrics, Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece.
A
A
Papadimitriou
D000367:Age Factors; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005941:Glucokinase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
D005941:Glucokinase
Anti-GAD antibodies; Glucokinase; Hyperglycaemia; MODY; Maturity-onset diabetes of the young