article_metadata: Julie Désir Frauke Coppieters Nicole Van Regemorter Elfride De Baere Marc Abramowicz Monique Cordonnier
article_metadata: Mol Vis
article_metadata: 2012;18:1849-57.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/22815638/
article_metadata: Membrane Proteins / genetics Optic Atrophy / genetics
article_metadata: Membrane Proteins / genetics Optic Atrophy / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Chromosomes, Human, Pair 11 Consanguinity Genes, Recessive Genetic Loci Heterozygote Homozygote Humans Optic Atrophy / ethnology Pedigree Sequence Analysis, DNA Siblings Membrane Proteins TMEM126A protein, human
article_metadata: PMC3398502
article_metadata: 22815638
article_metadata: TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
article_metadata: 2012