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...
| Hlavní autoři: | , , , , , |
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| Médium: | Článek |
| Jazyk: | English |
| Vydáno: |
Public Library of Science (PLoS)
2012-01-01
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| Edice: | PLoS ONE |
| On-line přístup: | http://europepmc.org/articles/PMC3250427?pdf=render |