MODY2 caused by a novel mutation of GCK gene.

doi:10.1515/jpem-2012-0137

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Article

MODY2 caused by a novel mutation of GCK gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012

Pulst Kerti, Arbo Triin, Kahre Tiina, Peet Aleksandr, Tillmann Vallo

Abstract excerpt

Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant inherited disease caused by heterozygous inactivating mutations in the glucokinase (GCK) gene and is characterized by mild noninsulin-dependent fasting hyperglycemia. It is treated with diet only, and complications are extremely rare. We present a report of a family with MODY2 caused by a novel NM_000162.3:c.878T>C mutation in exon 8 of...

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PMID: 23155715
DOI: 10.1515/jpem-2012-0137

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