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Article

"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.

International journal of molecular sciences - 17 Feb 2023

Salina Alessandro, Bassi Marta, Aloi Concetta, Strati Marina Francesca, Bocciardi Renata, d'Annunzio Giuseppe, Maghnie Mohamad, Minuto Nicola

Abstract excerpt

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes mellitus (DM) that accounts for around 2-5% of all types of diabetes. Autosomal dominant inheritance in pathogenic variations of 14 genes related to β-cell functions can lead to monogenic types of diabetes. In Italy, GCK/MODY is the most frequent form and it is caused by mutations of the glucokinase (GCK). Patients with GCK/MODY usually...

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PMID: 36835446
DOI: 10.3390/ijms24044034
PMCID: PMC9961661

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