Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations

Research output: Contribution to journalJournal articleResearchpeer-review

Stepanka Pruhova, Petra Dusatkova, Zdenek Sumnik, Stanislava Kolouskova, Oluf Pedersen, Torben Hansen, Ondrej Cinek, Jan Lebl

Glucokinase diabetes, also called GCK-MODY or maturity-onset diabetes of the young type 2 (MODY2), is caused by heterozygous mutations in the gene encoding glucokinase (GCK). Objective: The aim of study was to investigate the current prevalence of GCK mutations in a large cohort of Czech patients with typical clinical appearance of GCK-MODY. In addition, we reanalyzed the negative results obtained previously by screening using the denaturing high-performance liquid chromatography (dHPLC).
Original languageEnglish
JournalPediatric Diabetes Online
Volume11
Issue number8
Pages (from-to)529-35
Number of pages7
ISSN1399-5448
DOIs
Publication statusPublished - 1 Dec 2010

    Research areas

  • Adolescent, Child, Chromatography, High Pressure Liquid, Czech Republic, Diabetes Mellitus, Type 2, Glucokinase, Humans, Mutation, Prevalence, Protein Denaturation, Young Adult

ID: 35312405