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Novel deletion mutation in the glucokinase gene from a korean man with GCK-MODY phenotype and situs inversus.

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A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the… Click to show full abstract

A novel mutation in intron 9-exon 10 boundary of the GCK gene was detected in a male patient with clinical features of GCK-MODY and situs inversus. This case highlights the value of sequencing the GCK gene in individuals with GCK-MODY phenotype and no family history of monogenic diabetes.

Keywords: gck mody; mody phenotype; situs inversus; gene; mutation

Journal Title: Diabetes research and clinical practice
Year Published: 2018

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