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Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus
- Issue Date
- Sep-2018
- Publisher
- ELSEVIER IRELAND LTD
- Keywords
- Glucokinase; Maturity-onset diabetes of the young; Situs inversus
- Citation
- DIABETES RESEARCH AND CLINICAL PRACTICE, v.143, pp 263 - 266
- Pages
- 4
- Journal Title
- DIABETES RESEARCH AND CLINICAL PRACTICE
- Volume
- 143
- Start Page
- 263
- End Page
- 266
- ISSN
- 0168-8227
1872-8227
- Abstract
- A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes. (C) 2018 Elsevier B.V. All rights reserved.
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