A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.
Cardaioli
Elena
E
Gallus
Gian Nicola
GN
Da Pozzo
Paola
P
Rufa
Alessandra
A
Franceschini
Rossella
R
Motolese
Eduardo
E
Caporossi
Aldo
A
Dotti
Maria T
MT
Federico
Antonio
A
D000328:Adult; D001120:Arginine / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics*
D018389:Codon, Nonsense; D001120:Arginine; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human