PubMed · 2005 · 28 citations · 20 references
All known MODY genes were screened for abnormalities in this cohort of early-onset diabetes families which included 5 MODY pedigrees. We identified a new HNF-1alpha MODY mutation (P379H) and demonstrated that it reduces the transactivation potential of the mutant protein on the human insulin promoter. No other mutation was identified in this cohort indicating that abnormalities in MODY genes are generally not a common cause of early-onset diabetes and this includes MODY families in Mexico.
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Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
Kazuya Yamagata, Naohisa Oda, Pamela J. Kaisaki et al. · Nature · 1996 · 1.6K citations · Full text