期刊
JOURNAL OF PEDIATRICS
卷 146, 期 5, 页码 706-708出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2005.01.032
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Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-COA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.
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