Article
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PloS one - 2 Apr 2008
Tinto Nadia, Zagari Adriana, Capuano Marina, De Simone Alfonso, Capobianco Valentina, Daniele Gerardo, Giugliano Michela, Spadaro Raffaella, Franzese Adriana, Sacchetti Lucia
Abstract excerpt
BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations in the protein were analyzed by molecular modeling. The patients' biochemical,...
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