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Article

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Frontiers in endocrinology - 1 Jan 2022

Ngoc Can Thi Bich, Dung Vu Chi, De Franco Elisa, Lan Nguyen Ngoc, Thao Bui Phuong, Khanh Nguyen Ngoc, Flanagan Sarah E, Craig Maria E, Hoang Nguyen Huy, Dien Tran Minh

Abstract excerpt

Background: Neonatal diabetes mellitus (NDM) is a rare (1:90,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Dominantly-acting insulin (INS) gene mutations cause permanent NDM through single amino acid changes in the protein sequence leading to protein misfolding, which is retained within the endoplasmic reticulum (ER), causing ER...

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Identifiers

PMID: 35518939
DOI: 10.3389/fendo.2022.866573
PMCID: PMC9063464

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