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