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The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy

✍ Scribed by T Sandal; LB Laborie; K Brusgaard; SÅ Eide; HBT Christesen; O Søvik; PR Njølstad; A Molven


Book ID
110888762
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
151 KB
Volume
75
Category
Article
ISSN
0009-9163

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Mutation spectra of ABCC8 gene in Spanis
✍ Ana Fernández–Marmiesse; Antonio Salas; Ana Vega; José Ramón Fernández–Lorenzo; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 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