V. Radha

Functional Characterization of a Novel HNF1A Frameshift Mutation, p.Ser471Profs*14, in an Indian Patient with MODY3 Subtype

HNF1A -MODY (MODY3) is a monogenic form of diabetes caused by pathogenic variants in the HNF1A gene, a transcription factor essential for pancreatic β-cell development and function. Since there are no functional studies of the truncation mutation, we aimed to understand the functional basis of the n...