SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-269
Abstract: Abstract Background. Hyperinsulinism (HI) is diagnosed based on biochemical evidence of hypoglycemia associated with increased insulin secretion/action. Few individuals with HI harbor mutations in the HNF1A gene; they are hypoglycemic and responsive to diazoxide early… read more here.
Keywords: hnf1a gene; hyperinsulinism; blood; blood glucose ... See more keywords
Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i6.1909
Abstract: BACKGROUND 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… read more here.
Keywords: onset diabetes; mutation; maturity onset; case ... See more keywords
In Silico Analysis Identified Putative Pathogenic Missense Single Nucleotide Polymorphisms (SNPs) in the Human HNF1A Gene
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26083768
Abstract: Maturity-onset diabetes of the young (MODY) is a rare genetic condition that affects children, adolescents, and adults. Studies have shown that genetic changes in the HNF1A gene are associated with MODY-3. However, most of the… read more here.
Keywords: variants arg168cys; missense; arg168cys glu275ala; hnf1a gene ... See more keywords