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  • Naturally occurring glucokinas...
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Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia

Dettagli Bibliografici
Autori principali: Beer, N, Tribble, N, Colclough, K, Arundel, P, Grimsby, J, Chik, C, Ellard, S, Gloyn, A
Natura: Conference item
Pubblicazione: 2010
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Documenti analoghi

  • Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
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  • Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
    di: Tribble, N, et al.
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  • Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
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  • Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
    di: Beer, N, et al.
    Pubblicazione: (2009)
  • Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
    di: Osbak, K, et al.
    Pubblicazione: (2009)

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