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- W4213156712 abstract "Maturity-onset diabetes of the young 3 (MODY3), caused by mutations in the HNF1A gene, is the most common subtype of MODY. The diagnosis of MODY3 is critical because a low dose of sulfonylurea agents can achieve glucose control.We describe a patient with MODY3 involving a novel splicing mutation, in whom low-dose gliclazide was sufficient to control clinically significant hyperglycemia. Sanger sequencing identified a splicing HNF1A mutation in 12q24 NM_000545.5 Intron5 c.1108-1G>A. Glycemic control has been maintained without insulin therapy for 28 mo after the diagnosis of diabetes.This case report highlights a novel HNF1A gene mutation in MODY3 that is responsive to sulfonylurea therapy." @default.
- W4213156712 created "2022-02-24" @default.
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- W4213156712 date "2022-02-26" @default.
- W4213156712 modified "2023-10-16" @default.
- W4213156712 title "Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report" @default.
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- W4213156712 doi "https://doi.org/10.12998/wjcc.v10.i6.1909" @default.
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