Article
Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.
Clinical endocrinology - 1 Sept 2013
López-Garrido M P, Herranz-Antolín S, Alija-Merillas M J, Giralt P, Escribano J
Abstract excerpt
OBJECTIVE: To determine the genetic basis of dominant early-onset diabetes mellitus in two families. PATIENTS AND METHODS: Molecular analysis by PCR sequencing of the promoter, the 5' untranslated region (UTR) and exons of both GCK and HNF1A genes was carried out in two families with clinically diagnosed dominant diabetes mellitus. RESULTS: The novel HNF1A c.-154_-160TGGGGGT mutation, located in the 5' UTR, was...
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