Title of article
Missense mutations in the pancreatic beta-cell ATP-sensitive potassium channel Kir6.2: A case study of Pakistani patient of neonatal diabetes
Author/Authors
Kiran, Shazia Baqai Medical University - Baqai Institute of Diabetology and Endocrinology, Pakistan , Khan, Ishtiaq A. University of Karachi - International Center for Chemical and Biological Sciences - Dr Panjwani Center for Molecular Medicine and Drug Research, Pakistan , Salman, Ahmed Baqai Medical University - Baqai Institute of Diabetology and Endocrinology, Pakistan , Azim, M. Kamran University of Karachi - International Center for Chemical and Biological Sciences - Dr Panjwani Center for Molecular Medicine and Drug Research, Pakistan , Fawwad, Asher Baqai Medical University - Baqai Institute of Diabetology and Endocrinology, Pakistan
From page
213
To page
216
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.
Keywords
Single Nucleotide Polymorphism , Nonsynonymous mutation , Genetic variation.
Journal title
Pakistan Journal of Medical Sciences
Journal title
Pakistan Journal of Medical Sciences
Record number
2643313
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