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MITOCHONDRIAL DNA DEPLETION SYNDROME DUE TO MUTATIONS IN THE RRM2B GENE

Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17. Recently, mutations in...

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Dettagli Bibliografici
Autori principali: Bornstein, Belén, Area, Estela, Flanigan, Kevin M., Ganesh, Jaya, Jayakar, Parul, Swoboda, Kathryn J., Coku, Jorida, Naini, Ali, Shanske, Sara, Tanji, Kurenai, Hirano, Michio, DiMauro, Salvatore
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3891825/
https://ncbi.nlm.nih.gov/pubmed/18504129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2008.04.006
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