A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.
Ban
Yuriko
Y
Yoshida
Yusuke
Y
Kawasaki
Satoshi
S
Mochida
Chikako
C
D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D014794:Visual Fields
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human