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We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.

Original publication

DOI

10.1016/j.jpeds.2004.09.008

Type

Journal article

Journal

J Pediatr

Publication Date

01/2005

Volume

146

Pages

131 - 133

Keywords

Asian Continental Ancestry Group, Consanguinity, Diabetes Mellitus, Type 1, Female, Glucokinase, Homozygote, Humans, Infant, Newborn, Mutation, Missense, Pakistan, Pedigree