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http://hdl.handle.net/20.500.12188/11106| Title: | Novel glucokinase gene mutation in the first Macedonian family tested for MODY | Authors: | M. Kocova L. Elblova S. Pruhova J. Lebl P. Dusatkova |
Issue Date: | Aug-2017 | Publisher: | Elsevier BV | Journal: | Diabetes Research and Clinical Practice | Abstract: | We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY. | URI: | http://hdl.handle.net/20.500.12188/11106 | DOI: | 10.1016/j.diabres.2017.04.001 |
| Appears in Collections: | Faculty of Medicine: Journal Articles |
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