Shazia Kiran, Ishtiaq A Khan, Ahmed Salman, Kamran Azim, Asher Fawwad.
Missense mutations in the pancreatic beta-cell Atp-sensitive potassium channel kir6.2: a case study of Pakistani patient of neonatal diabetes.
Pak J Med Sci Jan ;28(2):213-6.

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.

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