Article
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
Diabetic medicine : a journal of the British Diabetic Association - 1 Aug 2005
Shehadeh N, Bakri D, Njølstad P R, Gershoni-Baruch R
Abstract excerpt
AIMS: To investigate the prevalence and clinical characteristics of heterozygotes of the glucokinase gene mutations G264S and IVS8+2 in the extended pedigree of two patients with permanent neonatal diabetes as a result of glucokinase deficiency (IVS8+2 homozygosity and IVS8+2/G264S compound heterozygosity). METHODS: Eighty-eight first, second and third degree family members of the two patients with permanent...
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