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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
- Publication Year :
- 2018
-
Abstract
- We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.
- Subjects :
- Genetics
Hungary
Mitochondrial DNA
Mutation
Sequence analysis
Point mutation
Nucleic acid sequence
Optic Atrophy, Hereditary, Leber
Biology
Cytochrome b Group
medicine.disease_cause
DNA, Mitochondrial
Genetic determinism
Human genetics
Electron Transport Complex IV
Amino Acid Substitution
medicine
Humans
Point Mutation
Genetics (clinical)
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....9c01b9e28fb4269ba9f7a408255b2491