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Article

A novel mutation in the ABCC8 gene causing maturity-onset diabetes of the young: A case report.

Clinical medicine (London, England) - 1 Mar 2024

Guo Yifan, Chen Yangli, Liang Wen, Zeng Lirong, Hu Fang, Zeng Yingjuan, Cong Li

Abstract excerpt

A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good...

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Identifiers

PMID: 38513803
DOI: 10.1016/j.clinme.2024.100033
PMCID: PMC11091440

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