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Article

Novel glucokinase gene mutation in the first Macedonian family tested for MODY.

Diabetes research and clinical practice - 1 Aug 2017

Kocova M, Elblova L, Pruhova S, Lebl J, Dusatkova P

Abstract excerpt

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.

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Source

Identifiers

PMID: 28575730
DOI: 10.1016/j.diabres.2017.04.001

Genes

GCK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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