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A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications
AIMS/HYPOTHESIS: Heterozygous activating mutations in the pancreatic ATP-sensitive K(+) channel cause permanent neonatal diabetes mellitus (PNDM). This results from a decrease in the ability of ATP to close the channel, which thereby suppresses insulin secretion. PNDM mutations that cause a severe r...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2292422/ https://www.ncbi.nlm.nih.gov/pubmed/18335204 http://dx.doi.org/10.1007/s00125-008-0923-1 |