Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function
Published inThe Journal of clinical endocrinology and metabolism, vol. 90, no. 9, p. 5401-5406
Publication date2005
Abstract
Keywords
- ATP-Binding Cassette Transporters/genetics/metabolism
- Adenosine Triphosphate/metabolism
- Amino Acid Sequence
- Cell Line
- Fluorescent Antibody Technique
- Homozygote
- Humans
- Hyperinsulinism/congenital/genetics
- Immunohistochemistry
- Infant, Newborn
- Microscopy, Confocal
- Molecular Sequence Data
- Mutation, Missense
- Patch-Clamp Techniques
- Potassium Channels/genetics/metabolism
- Potassium Channels, Inwardly Rectifying/genetics/metabolism/physiology
- Protein Transport
- Receptors, Drug/genetics/metabolism
- Staining and Labeling
- Sulfonylurea Receptors
- Transfection
Affiliation
Research group
Citation (ISO format)
MARTHINET, Eric et al. Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function. In: The Journal of clinical endocrinology and metabolism, 2005, vol. 90, n° 9, p. 5401–5406. doi: 10.1210/jc.2005-0202
Main files (1)
Article (Accepted version)
Identifiers
- PID : unige:36659
- DOI : 10.1210/jc.2005-0202
- PMID : 15998776
ISSN of the journal0021-972X
