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Article

Pedigree Analysis of Maturity-Onset Diabetes of the Young: ABCC8 Mutations?

Clinical laboratory - 1 Nov 2024

Fan Xiaofang, Wang Lingxiao, Hong Pingping

Abstract excerpt

BACKGROUND: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11. METHODS: A case suspected of MODY due to an ABCC8 mutation was examined using whole-genome exon high-throughput sequencing. Selected variant sites were validated via Sanger sequencing. RESULTS: A heterozygous mutation c.2060C>T (p.T687M) in exon 15 of the ABCC8 gene...

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PMID: 39506571
DOI: 10.7754/Clin.Lab.2024.240537

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