Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11106| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | M. Kocova | en_US |
| dc.contributor.author | L. Elblova | en_US |
| dc.contributor.author | S. Pruhova | en_US |
| dc.contributor.author | J. Lebl | en_US |
| dc.contributor.author | P. Dusatkova | en_US |
| dc.date.accessioned | 2021-03-22T08:20:08Z | - |
| dc.date.available | 2021-03-22T08:20:08Z | - |
| dc.date.issued | 2017-08 | - |
| dc.identifier.uri | http://hdl.handle.net/20.500.12188/11106 | - |
| dc.description.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. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Elsevier BV | en_US |
| dc.relation.ispartof | Diabetes Research and Clinical Practice | en_US |
| dc.title | Novel glucokinase gene mutation in the first Macedonian family tested for MODY | en_US |
| dc.type | Article | en_US |
| dc.identifier.doi | 10.1016/j.diabres.2017.04.001 | - |
| dc.identifier.url | https://api.elsevier.com/content/article/PII:S0168822716317442?httpAccept=text/xml | - |
| dc.identifier.url | https://api.elsevier.com/content/article/PII:S0168822716317442?httpAccept=text/plain | - |
| dc.identifier.volume | 130 | - |
| dc.identifier.fpage | 86 | - |
| dc.identifier.lpage | 89 | - |
| item.grantfulltext | none | - |
| item.fulltext | No Fulltext | - |
| crisitem.author.dept | Faculty of Medicine | - |
| Appears in Collections: | Faculty of Medicine: Journal Articles | |
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