Gloyn, Anna L

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. [electronic resource] - The New England journal of medicine Apr 2004 - 1838-49 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1533-4406

10.1056/NEJMoa032922 doi


DNA Mutational Analysis
Developmental Disabilities--genetics
Diabetes Mellitus--genetics
Epilepsy--genetics
Face--abnormalities
Female
Heterozygote
Humans
Infant, Newborn
Islets of Langerhans--metabolism
Male
Mutation
Pedigree
Potassium Channels, Inwardly Rectifying--chemistry
Sequence Analysis, DNA