Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
المؤلفون الرئيسيون: | Beer, N, Tribble, N, Colclough, K, Arundel, P, Grimsby, J, Chik, C, Ellard, S, Gloyn, A |
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التنسيق: | Conference item |
منشور في: |
2010
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مواد مشابهة
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Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
حسب: Beer, N, وآخرون
منشور في: (2011) -
Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
حسب: Tribble, N, وآخرون
منشور في: (2009) -
Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
حسب: Ding, S, وآخرون
منشور في: (2010) -
Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
حسب: Beer, N, وآخرون
منشور في: (2009) -
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
حسب: Osbak, K, وآخرون
منشور في: (2009)