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

INTRODUCTION: Aicardi-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...

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Detalles Bibliográficos
Autores principales: Dragoni, Francesca, Garau, Jessica, Orcesi, Simona, Varesio, Costanza, Bordoni, Matteo, Scarian, Eveljn, Di Gerlando, Rosalinda, Fazzi, Elisa, Battini, Roberta, Gjurgjaj, Altea, Rizzo, Bartolo, Pansarasa, Orietta, Gagliardi, Stella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043473/
https://www.ncbi.nlm.nih.gov/pubmed/36998476
http://dx.doi.org/10.3389/fendo.2023.1152237

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