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Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
Dades bibliogràfiques
Autors principals:
van de Bunt, M
,
Edghill, E
,
Hussain, K
,
Ellard, S
,
Gloyn, A
Format:
Journal article
Idioma:
English
Publicat:
2008
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Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
per: Gloyn, A, et al.
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Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
per: Gloyn, A, et al.
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Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
per: Gloyn, A, et al.
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Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
per: Gloyn, A, et al.
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Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
per: Wabitsch, M, et al.
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