期刊
JOURNAL OF PEDIATRICS
卷 146, 期 1, 页码 131-133出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2004.09.008
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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..
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