Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
NJ Marchbank, JE Craig, JP Leek, M Toohey, AJ Churchill, AF Markham, DA Mackey, C Toomes, CF Inglehearn
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2002
Awarded by Wellcome Trust
The first two authors contributed equally to this work. The authors would like to thank the members of this family, without whom the study would not have been possible. The financial support of the Wellcome Trust (grants 035535/Z96 and 054529/Z98), the National Eye Research Centre, the Trustees of St James's University Hospital, and the Ophthalmic Research Institute of Australia is also gratefully acknowledged. NJM is supported by the Emma and Leslie Reid Scholarship, University of Leeds.