title: Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.
authors.affiliation: Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Marchbank
authors.forename: J E
authors.initials: JE
authors.lastname: Craig
authors.forename: J P
authors.initials: JP
authors.lastname: Leek
authors.forename: M
authors.initials: M
authors.lastname: Toohey
authors.forename: A J
authors.initials: AJ
authors.lastname: Churchill
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: D A
authors.initials: DA
authors.lastname: Mackey
authors.forename: C
authors.initials: C
authors.lastname: Toomes
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
mesh_terms: 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
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human