Julie Désir Frauke Coppieters Nicole Van Regemorter Elfride De Baere Marc Abramowicz Monique Cordonnier
Mol Vis
2012;18:1849-57.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22815638/
Membrane Proteins / genetics Optic Atrophy / genetics
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
PMC3398502
22815638
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy
2012