A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. [electronic resource]
Producer: 20110809Description: 1893-905 p. digitalISSN:- 1460-2083
- Adolescent
- Adult
- Child
- Chromosomes, Human, Pair 16 -- genetics
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- DNA, Mitochondrial -- genetics
- Female
- Genome-Wide Association Study
- Haplotypes
- Humans
- Male
- Microsatellite Repeats -- genetics
- Middle Aged
- Mitochondria -- metabolism
- Muscle, Skeletal -- metabolism
- Optic Atrophy, Autosomal Dominant -- genetics
- Pedigree
- Polymorphism, Genetic -- genetics
- Retinal Vessels -- pathology
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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