- Tytuł:
- Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.
- Autorzy:
- Źródło:
- Biochemistry. Biokhimiia [Biochemistry (Mosc)] 2016 Jul; Vol. 81 (7), pp. 748-54.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
DNA, Mitochondrial/*genetics
NADH Dehydrogenase/*genetics
Optic Atrophy, Hereditary, Leber/*genetics
Adult ; Blood Platelets/cytology ; Blood Platelets/metabolism ; Cells, Cultured ; Female ; Fibroblasts/cytology ; Fibroblasts/metabolism ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; NADH Dehydrogenase/metabolism ; Optic Atrophy, Hereditary, Leber/pathology ; Oxygen Consumption/drug effects ; Polymorphism, Single Nucleotide ; Reactive Oxygen Species/metabolism ; Rotenone/pharmacology ; Sequence Analysis, DNA ; Young Adult
Czasopismo naukowe