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Mitochondrial depletion syndrome type 3: the Lebanese variant

Introduction: Mitochondrial DNA depletion syndrome type 3 is an emerging disorder linked to variants in the deoxyguanosine kinase gene, which encodes for mitochondrial maintenance. This autosomal recessive disorder is frequent in the Middle East and North Africa. Diagnosis is often delayed due to th...

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Detalles Bibliográficos
Autores principales: Majdalani, Marianne, Yazbeck, Nadine, El Harake, Lamis, Samaha, Jinane, Karam, Pascale E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339285/
https://www.ncbi.nlm.nih.gov/pubmed/37456661
http://dx.doi.org/10.3389/fgene.2023.1215083

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