1.
Pakistan Journal of Medical Sciences. 2012; 28 (1): 213-216
in English
| IMEMR
| ID: emr-141565
ABSTRACT
This case study describes clinical and molecular genetic data of a 45 days old male patient of neonatal diabetes mellitus. PCR amplification followed by DNA sequencing revealed two point mutations at positions 67A>G and 1009G>A in KCNJ11 gene encoding Kir6.2 protein, a component of the beta-cell ATP-sensitive potassium [KATP] channel which is a key component involved in insulin secretion