Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and < em > RFX6 < /em > in Children with Autoantibody-negative Type 1 Diabetes Mellitus
CONCLUSION: This study screened mutations in the 14 MODY-related genes and the regulatory factor X6 (RFX6) gene in Turkish children diagnosed with autoantibody-negative type 1 diabetes mellitus (T1DM). The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also established three additional novel mutations in different MODY genes.PMID:38054414 | DOI:10.4274/jcrpe.galenos.2023.2023-5-10
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Authors: Enver Şimşek Oguz Cilingir Tulay Simsek Sinem Kocagil Ebru Erzurumluoglu Gokalp Meliha Demiral Cigdem Binay Source Type: research
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