Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion, and mitochondrial dynamics is important for several cellular functions. DNM1L is the most important mediator of mitochondrial fission, with a role also in peroxisome division. Few reports of patients with genetic d...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: Nasca, Alessia, Legati, Andrea, Baruffini, Enrico, Nolli, Cecilia, Moroni, Isabella, Ardissone, Anna, Goffrini, Paola, Ghezzi, Daniele
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2016
Aiheet:
Brief Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5108486/
https://ncbi.nlm.nih.gov/pubmed/27328748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23033
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