Article
Structural and biophysical characterization of HNF-1A as a tool to study MODY3 diabetes variants
2021-12-21
Abstract excerpt
Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating expression of numerous target genes. Pathogenic variants in the HNF1A gene cause maturity-onset diabetes of the young 3 (MODY3 or HNF1A MODY), characterized by dominant inheritance, age of onset before 25-35 years of age, and pancreatic β-cell dysfunction. A precise diagnosis alters manage...
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Identifiers and source
- Literature Corpus work
- 32499712-30c1-5ccc-86d7-17a0afad3dab
- DOI
- 10.1101/2021.12.20.473529
