Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

OBJECTIVES: Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the TOP3A gene have been associated with the Bloom syndrome–like disorder and described in an adult pat...

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Detalles Bibliográficos
Autores principales: Primiano, Guido, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258978/
https://www.ncbi.nlm.nih.gov/pubmed/35812164
http://dx.doi.org/10.1212/NXG.0000000000200007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258978/
https://www.ncbi.nlm.nih.gov/pubmed/35812164
http://dx.doi.org/10.1212/NXG.0000000000200007

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