title: A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cardaioli
authors.forename: Gian Nicola
authors.initials: GN
authors.lastname: Gallus
authors.forename: Paola
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rufa
authors.forename: Rossella
authors.initials: R
authors.lastname: Franceschini
authors.forename: Eduardo
authors.initials: E
authors.lastname: Motolese
authors.forename: Aldo
authors.initials: A
authors.lastname: Caporossi
authors.forename: Maria T
authors.initials: MT
authors.lastname: Dotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: 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*
chemical_list: D018389:Codon, Nonsense; D001120:Arginine; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human