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Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.

Clinical genetics - 1 Mar 2012

Borowiec M, Antosik K, Fendler W, Deja G, Jarosz-Chobot P, Mysliwiec M, Zmyslowska A, Malecki M, Szadkowska A, Mlynarski W

Abstract excerpt

Glucokinase (GCK) gene mutations are the causative factor of GCK-MD (monogenic diabetes) characterized by a mild clinical phenotype and potential for insulin withdrawal. This study presents the results of a nationwide genetic screening for GCK-MD performed in Poland. A group of 194 patients with clinical suspicion of GCK-MD and 17 patients with neonatal diabetes were subjected to GCK sequencing. Patients negative...

Topics

Diabetes Mellitus
Female
Founder Effect
Germinal Center Kinases
Humans
Male
Mutation
Pedigree
Protein Serine-Threonine Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21348868
DOI: 10.1111/j.1399-0004.2011.01656.x

Genes

GCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.PMID 21348868Read ↗

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