Article
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Diabetes - 1 Apr 2008
Edghill Emma L, Flanagan Sarah E, Patch Ann-Marie, Boustred Chris, Parrish Andrew, Shields Beverley, Shepherd Maggie H, Hussain Khalid, Kapoor Ritika R, Malecki Maciej, MacDonald Michael J, Støy Julie, Steiner Donald F, Philipson Louis H, Bell Graeme I, Hattersley Andrew T, Ellard Sian
Abstract excerpt
OBJECTIVE: Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype of INS mutations in large cohorts of patients with neonatal diabetes and permanent diabetes diagnosed in infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 285 patients with diabetes...
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