Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).

Abstract

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… (More)

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