Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Yu-Wai-Man
Patrick
P
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.
Shankar
Suma P
SP
Biousse
Valérie
V
Miller
Neil R
NR
Bean
Lora J H
LJ
Coffee
Bradford
B
Hegde
Madhuri
M
Newman
Nancy J
NJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009693:Nucleic Acid Hybridization; D009896:Optic Atrophy / Q000235:genetics; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012189:Retrospective Studies; D014792:Visual Acuity; D055815:Young Adult
D004272:DNA, Mitochondrial; C443108:OPA3 protein, human; D011506:Proteins; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human