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Article

[Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2].

Molekuliarnaia biologiia - 1 Jan 2000

Igudin E L, Spirin P V, Prasolov V S, Zubkov N A, Petriaĭkina E E, Tiul'pakov A N, Rubtsov P M

Abstract excerpt

Two novel mutations in glucokinase (GCK) gene-G to C substitution at -1 position of intron 7 acceptor splice site (c. 864-1G>C) and synonymous substitution c. 666C>G (GTC>GTG, p.V222V) in exon 6--were identified in patients with monogenic diabetes MODY2 (Maturity Onset Diabetes of Young). GCK minigenes with these mutations were constructed. Analysis of splicing products upon transfection of minigenes into human...

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Identifiers

PMID: 25850297

Genes

GCK

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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