Article ID Journal Published Year Pages File Type
5899808 Diabetes Research and Clinical Practice 2014 4 Pages PDF
Abstract

A 4-month-old male baby was diagnosed with Permanent Neonatal Diabetes Mellitus. We identified a novel missense heterogeneous mutation in the KCNJ11 gene at codon 167 (aTC → tTC) in a region that corresponds to a predicted intracellular gate of the ATP-sensitive potassium channel.

Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Endocrinology
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