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Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reve...
Ribeiro, Andreia Fiúza; Fitas, Ana Laura; Pires, Marcela Oliveira; Matoso, Paula; Ligeiro, Dário; Sobral, Daniel; Penha-Gonçalves, CarlosPublisher Copyright: Copyright © 2024 Andreia Fiúza Ribeiro et al.; Aims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA clas...
The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and d...
Caramalho, Iris; Matoso, Paula; Ligeiro, Dário; Paixão, Tiago; Sobral, Daniel; Fitas, Ana Laura; Limbert, Catarina; Demengeot, JocelyneFunding Information: The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the European Foundation for the Study of Diabetes (EFSD/JDRF/Lilly Programme 2016), Maratona da Saúde and Fundação para a Ciência e a Tecnologia (CEECIND/00148/2017 to Iris Caramalho). Acknowledgments Publisher Copyright: Copyright © 2024 Caramalh...