Journal article
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
- Abstract:
-
Inwardly rectifying potassium channels (Kir channels) control cell membrane K(+) fluxes and electrical signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM). For some mutations, PNDM is accompanied by marked developmental delay, muscle weakness, and epilepsy (severe disease). To determine the molecular basis of these different phenotypes, we ex...
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- Publication status:
- Published
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- Publisher copy:
- 10.1073/pnas.0404756101
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Bibliographic Details
- Journal:
- Proceedings of the National Academy of Sciences of the United States of America
- Volume:
- 101
- Issue:
- 50
- Pages:
- 17539-17544
- Publication date:
- 2004-12-05
- DOI:
- EISSN:
-
1091-6490
- ISSN:
-
0027-8424
- URN:
-
uuid:02115729-47fb-4169-84c3-ff49db08e762
- Source identifiers:
-
27047
- Local pid:
- pubs:27047
Item Description
- Language:
- English
- Keywords:
Terms of use
- Copyright date:
- 2004
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