Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions...

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Detalhes bibliográficos
Main Authors: Ronchi, Dario, Garone, Caterina, Bordoni, Andreina, Gutierrez Rios, Purificacion, Calvo, Sarah E., Ripolone, Michela, Ranieri, Michela, Rizzuti, Mafalda, Villa, Luisa, Magri, Francesca, Corti, Stefania, Bresolin, Nereo, Mootha, Vamsi K., Moggio, Maurizio, DiMauro, Salvatore, Comi, Giacomo P., Sciacco, Monica
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501975/
https://ncbi.nlm.nih.gov/pubmed/23043144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws258
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