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Article

A novel genetic mutation in a Portuguese family with GCK-MODY.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2014

Almeida Cláudia, Silva Sónia Regina, Garcia Elsa, Leite Ana Luísa, Teles Andreia, Campos Rosa Arménia

Abstract excerpt

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous form of diabetes mellitus, with autosomal dominant inheritance. It accounts for 2%-5% of all diabetes cases. Glucokinase-MODY is the second most frequent form, which has been shown to be the result of mutations in the glucokinase (GCK) gene. It mostly presents with mild hyperglycemia, and, usually, no diabetes-related...

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Source

Identifiers

PMID: 23843579
DOI: 10.1515/jpem-2013-0056

Genes

GCK

Variants

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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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