Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
Marchbank
N J
NJ
Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, UK.
Craig
J E
JE
Leek
J P
JP
Toohey
M
M
Churchill
A J
AJ
Markham
A F
AF
Mackey
D A
DA
Toomes
C
C
Inglehearn
C F
CF
D005260:Female; D020558:GTP Phosphohydrolases / Q000172:deficiency* / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D006580:Genetic Carrier Screening; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D029241:Optic Atrophy, Autosomal Dominant / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human