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Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

Citation

Marchbank, NJ and Craig, JE and Leek, JP and Toohey, M and Churchill, AJ and Markham, AF and Mackey, DA and Toomes, C and Inglehearn, CF, Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease, Journal of Medical Genetics, 39, (8) pp. e47. ISSN 1468-6244 (2002) [Refereed Article]

DOI: doi:10.1136/jmg.39.8.e47

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Craig, JE (Mr Jamie Craig)
Author:Mackey, DA (Professor David Mackey)
ID Code:49047
Year Published:2002
Web of Science® Times Cited:51
Deposited By:Menzies Institute for Medical Research
Deposited On:2007-08-01
Last Modified:2011-11-08
Downloads:0

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