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Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex

Mitochondrial DNA depletion syndromes (MDDS) are a genetically and clinically heterogeneous group of human diseases caused by mutations in nuclear genes and characterized by a severe reduction in mitochondrial DNA (mtDNA) copy number leading to impaired energy production in affected tissues and orga...

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Detalles Bibliográficos
Autores principales: Gilberti, Micol, Baruffini, Enrico, Donnini, Claudia, Dallabona, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6166979/
https://www.ncbi.nlm.nih.gov/pubmed/30273399
http://dx.doi.org/10.1371/journal.pone.0205014

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