Diabetes Genomics & Genetics
Mutation carriers in family with glucokinase diabetes described
Published in Obesity and Diabetes Week, September 5th, 2005
In a recent report, researchers in Israel conducted a study "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). Eighty-eight first, second, and third degree family members of the two patients with permanent neonatal diabetes were genotyped."
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