Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.
Amati-Bonneau
P
P
Pasquier
L
L
Lainey
E
E
Ferré
M
M
Odent
S
S
Malthièry
Y
Y
Bonneau
D
D
Reynier
P
P
D000328:Adult; D003062:Codon / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D029241:Optic Atrophy, Autosomal Dominant / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012326:RNA Splicing
D003062:Codon; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human