Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome

IntroductionAicardi-Goutières Syndrome (AGS) is a rare encephalopathy with early onset that can be transmitted in both dominant and recessive forms. Its phenotypic covers a wide range of neurological and extraneurological symptoms. Nine genes that are all involved in nucleic acids (NAs) metabolism o...

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Bibliographic Details
Main Authors: Francesca Dragoni, Jessica Garau, Simona Orcesi, Costanza Varesio, Matteo Bordoni, Eveljn Scarian, Rosalinda Di Gerlando, Elisa Fazzi, Roberta Battini, Altea Gjurgjaj, Bartolo Rizzo, Orietta Pansarasa, Stella Gagliardi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1152237/full