OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier
P
P
Amati-Bonneau
P
P
Verny
C
C
Olichon
A
A
Simard
G
G
Guichet
A
A
Bonnemains
C
C
Malecaze
F
F
Malinge
M C
MC
Pelletier
J B
JB
Calvas
P
P
Dollfus
H
H
Belenguer
P
P
Malthièry
Y
Y
Lenaers
G
G
Bonneau
D
D
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D017209:Apoptosis / Q000187:drug effects; D002386:Cataract / Q000150:complications* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts; D005602:France; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008564:Membrane Potentials; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D019311:Staurosporine / Q000494:pharmacology
C443108:OPA3 protein, human; D011506:Proteins; D019311:Staurosporine