Article
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Diabetes - 1 Apr 2008
Polak Michel, Dechaume Aurélie, Cavé Hélène, Nimri Revital, Crosnier Hélène, Sulmont Véronique, de Kerdanet Marc, Scharfmann Raphael, Lebenthal Yael, Froguel Philippe, Vaxillaire Martine
Abstract excerpt
OBJECTIVE: Permanent neonatal diabetes (PND) is defined by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Several genes, including KCNJ11 and ABCC8, which encode the two subunits of the ATP-sensitive K(+) channel (K(ATP) channel) can cause PND. Mutations in the insulin (INS) gene have been recently described in families with neonatal diabetes. Our study...
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