Article
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young.
The Tohoku journal of experimental medicine - 1 Feb 2011
Jo Wakako, Endo Machiko, Ishizu Katura, Nakamura Akie, Tajima Toshihiro
Abstract excerpt
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous type of diabetes mellitus, characterized by early onset (often before 25 years of age) and absence of pancreatic autoimmunity markers. Paired-homeodomain transcription factor 4 (PAX4) functions as a transcriptional repressor and is involved in the differentiation of insulin-secreting β-cells. Here we identified a novel PAX4...
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