Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.
The aim of this study was to characterize the genetic etiology in a patient who presented with permanent neonatal diabetes at 2 months of age.Regulatory elements and coding exons 2 and 3 of the INS gene were amplified and sequenced from genomic and complementary DNA samples. A novel heterozygous INS...
Main Authors: | , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3250427?pdf=render |