Channelpedia

PubMed 24468099


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kir1.1 , Kir6.2



Title: A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.

Authors: Wei-Lun Chang, Chun-Jui Huang, Tsun-Hsiang Lei, Dau-Ming Niu, Chih-Yang Chiu, Tjin-Shing Jap

Journal, date & volume: Diabetes Res. Clin. Pract., 2014 Apr , 104, e29-32

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24468099


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.