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DOI: 10.1590/S0004-27302008000800020
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. In the present study we investigated the relative prevalence of GCK (glucokinase) and HNF1? (hepatocyte nuclear factor 1?) mutations, the more frequent causes of MODY, in 13 South-Brazilian families with multiple cases of diabetes consistent with MODY. Heterozygous variants in GCK and HNF1? […]
Keywords: Fator de transcrição; Glucokinase; Hepatocyte Nuclear Factor 1?; Maturity-onset diabetes of the young; monogenic diabetes; Transcription factor