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

✍ Scribed by Chang, Wei-Lun; Huang, Chun-Jui; Lei, Tsun-Hsiang; Niu, Dau-Ming; Chiu, Chih-Yang; Jap, Tjin-Shing


Book ID
122164245
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
861 KB
Volume
104
Category
Article
ISSN
0168-8227

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## Communicated by Richard G. H. Cotton Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in