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

journal contribution
posted on 2023-05-16, 20:37 authored by Marchbank, NJ, Jamie CraigJamie Craig, Leek, JP, Toohey, M, Churchill, AJ, Markham, AF, David MackeyDavid Mackey, Toomes, C, Inglehearn, CF
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History

Publication title

Journal of Medical Genetics

Volume

39

Issue

8

Pagination

e47

ISSN

1468-6244

Department/School

Menzies Institute for Medical Research

Publisher

B M J Publishing Group

Place of publication

British Med Assoc House, Tavistock Square, London, England, Wc1H 9Jr

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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    University Of Tasmania

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    In Copyright

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