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Sun Shim Choi  (Choi SS) 2 Articles
Corrigendum: Correction of Table. Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim
Endocrinol Metab. 2021;36(2):468.   Published online March 24, 2021
Corrects: Endocrinol Metab 2017;32(2):296
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Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
Eun-Hee Cho, Jae Woong Min, Sun Shim Choi, Hoon Sung Choi, Sang-Wook Kim
Endocrinol Metab. 2017;32(2):296-301.   Published online May 29, 2017
Correction in: Endocrinol Metab 2021;36(2):468
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  • 11 Citations
AbstractAbstract PDFPubReader   

Glucokinase maturity-onset diabetes of the young (GCK-MODY) represents a distinct subgroup of MODY that does not require hyperglycemia-lowering treatment and has very few diabetes-related complications. Three patients from two families who presented with clinical signs of GCK-MODY were evaluated. Whole-exome sequencing was performed and the effects of the identified mutations were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico modeling. We identified two mutations: p.Leu30Pro and p.Ser383Leu. In silico analyses predicted that these mutations result in structural conformational changes, protein destabilization, and thermal instability. Our findings may inform future GCK-MODY diagnosis; furthermore, the two mutations detected in two Korean families with GCK-MODY improve our understanding of the genetic basis of the disease.


Citations to this article as recorded by  
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    Diabetes Research and Clinical Practice.2018; 143: 263.     CrossRef
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