Insulin gene mutations as a cause of permanent neonatal diabetes

Abstract excerpt

We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led to the identification of the initial INS gene mutation. The mutations are inherited in an autosomal dominant manner in this and two other small families whereas the mutations in the other 13 patients are de novo....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diabetes and associated disorders
• Share to Metabolism, Diabetes, and Cancer
• Share to Pancreatic function and diabetes