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Article

Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.

Clinical endocrinology - 1 Jun 2008

Garin Intza, Rica Itxaso, Estalella Itziar, Oyarzabal Mirentxu, Rodríguez-Rigual Mercedes, San Pedro Jose Ignacio, Pérez-Nanclares Gustavo, Fernández-Rebollo Eduardo, Busturia Maria Angeles, Castaño Luis, Pérez de Nanclares Guiomar

Abstract excerpt

OBJECTIVE: The aim of this study was to characterize glucokinase (GCK) alterations in maturity-onset diabetes of the young 2 (MODY2)-suspected patients and to investigate their clinical characteristics in relation to the parental origin of the mutation. PATIENTS AND METHODS: We studied a group of 57 unrelated Spanish patients presenting with MODY2 phenotype. Patients without mutation in the coding region of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18248649
DOI: 10.1111/j.1365-2265.2008.03214.x

Genes

GCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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