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Mutations in the ABCC8 gene encoding the SUR1 subunit of the K(ATP) channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

AIM: Mutations in the ABCC8 gene encoding the SUR1 subunit of the pancreatic K(ATP) channel cause permanent (PNDM) and transient neonatal diabetes mellitus (TNDM). We reviewed the existing literature, extended the number of cases and explored genotype-phenotype correlations. METHODS: Mutations were...

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Dettagli Bibliografici
Pubblicato in:Diabetes Obes Metab
Autori principali: Patch, A.M., Flanagan, S.E., Boustred, C., Hattersley, A.T., Ellard, S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2007
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611803/
https://ncbi.nlm.nih.gov/pubmed/17919176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1463-1326.2007.00772.x
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