Mutation spectra of ABCC8 gene in Spanis
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Ana Fernández–Marmiesse; Antonio Salas; Ana Vega; José Ramón Fernández–Lorenzo;
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Article
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2006
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John Wiley and Sons
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English
⚖ 245 KB
Hyperinsulinism of Infancy (HI) is a clinical disorder characterized by deregulation of insulin secretion that leads to profound hypoglycemia. Mutations in genes encoding the ATP-regulated potassium channels of the pancreatic β-cell, namely ABCC8 (SUR1) and KCNJ11 (Kir6.2), are the major genetic kno