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Permanent neonatal diabetes in an Asian infant
J R Porter1, N J Shaw, T G Barrett
1Birmingham Children's Hospital, Birmingham, UK. j.porter@bham.ac.uk
Abstract:
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.
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