RSSDI Repository, Complications of Diabetes Demonstration RSSDI Repository, Complications of Diabetes Demonstration

Have a Question?

If you have any question you can ask below or enter what you are looking for!

  • Home/
  • Article /
  • Permanent neonatal diabetes caused by a novel mutation.

Permanent neonatal diabetes caused by a novel mutation.

Add to Collection
2012 Jun Others V Jain, S Kumar, SE Flanagan, S Ellard - Indian pediatrics, 2012 - Springer

Full Author : ['Jain, Vandana', 'Flanagan, Sarah E', 'Ellard, Sian']
Journal Title : Indian pediatrics
Chapter : Section3
Journal Year : 2012
Cited by : 11.0

Most cases of permanent form of neonatal diabetes mellitus (PNDM) are due to dominant heterozygous gain of function (activating) mutations in either KCNJ11 or ABCC8 genes, that code for Kir 6.2 and SUR1 subunits, respectively of the pancreatic b cell KATP..... Read More

Keywords : ["permanent neonatal diabetes cause", "novel mutation"]
PubMed Link : https://link.springer.com/article/10.1007/s13312-012-0093-6
Google Scholar Link : https://scholar.google.com/scholar?cites=16895009105170877604&as_sdt=800005&sciodt=0,15&hl=en&num=20