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Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes

Stoffel, M., Patel, P., Lo, Y.M., Hattersley, A.T., Lucassen, A., Page, R., Bell, J.I., Bell, G.I., Turner, R.C. and Wainscote, J.S. (1992) Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes Nature Genetics, 2, (2), pp. 153-156. (PMID:1303265).

Record type: Article


We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity?onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late?onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others without the mutation are also present with diabetes. The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes.

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Published date: October 1992


Local EPrints ID: 181229
ISSN: 1061-4036
PURE UUID: dc10b611-05b5-4e25-8fc6-b54e1858b458

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Date deposited: 13 Apr 2011 14:33
Last modified: 18 Oct 2017 15:25

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Author: M. Stoffel
Author: P. Patel
Author: Y.M. Lo
Author: A.T. Hattersley
Author: A. Lucassen
Author: R. Page
Author: J.I. Bell
Author: G.I. Bell
Author: R.C. Turner
Author: J.S. Wainscote

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