Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease de...

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Detaylı Bibliyografya
Yayımlandı:Metab Brain Dis
Asıl Yazarlar: Piotrowska-Nowak, Agnieszka, Krawczyński, Maciej R., Kosior-Jarecka, Ewa, Ambroziak, Anna M., Korwin, Magdalena, Ołdak, Monika, Tońska, Katarzyna, Bartnik, Ewa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer US 2020
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7584531/
https://ncbi.nlm.nih.gov/pubmed/32740724
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-020-00605-3
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