Carelli, Valerio

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. [electronic resource] - Human molecular genetics May 2011 - 1893-905 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddr071 doi


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