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Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.

Missense and nonsense mutations in the glucokinase gene have recently been shown to result in maturity-onset diabetes of the young (MODY), a subtype of non-insulin-dependent diabetes mellitus with early age of onset. Glucokinase catalyzes the formation of glucose-6-phosphate and is involved in the r...

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Udgivet i:J Clin Invest
Principais autores: Sun, F, Knebelmann, B, Pueyo, M E, Zouali, H, Lesage, S, Vaxillaire, M, Passa, P, Cohen, D, Velho, G, Antignac, C
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288255/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8376578/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116687
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