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Article

[Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family].

Revista medica de Chile - 1 Sept 2017

Pollak C Felipe, Lagos L Marcela, Santos M José L, Poggi Helena, Urzúa C Abraham, Rumié C Hana

Abstract excerpt

Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29424410
DOI: 10.4067/s0034-98872017000901203

Genes

GCK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family].PMID 29424410Read ↗

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