Heterozygous OPA1 mutations in Behr syndrome.
Cecilia
C
Marelli
Patrizia
P
Amati-Bonneau
Pascal
P
Reynier
Valérie
V
Layet
Antoine
A
Layet
Giovanni
G
Stevanin
Etienne
E
Brissaud
Dominique
D
Bonneau
Alexandra
A
Durr
Alexis
A
Brice
D001259:Ataxia / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation; D009896:Optic Atrophy / Q000151:congenital / Q000235:genetics; D013035:Spasm / Q000235:genetics
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human