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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2012
Teme:
Original Articles
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items