Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
European Journal of Human Genetics
Natue Publishing Group
MetadataShow full item record
Jurkute, N., Majander, A., Bowman, R., Votruba, M., Abbs, S., Acheson, J., Lenaers, G., et al. (2018). Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.. European Journal of Human Genetics, 27 (3), 494-502. https://doi.org/10.1038/s41431-018-0235-y
Inherited optic neuropathies can be caused by mitochondrial DNA (mtDNA) variants as in Leber hereditary optic neuropathy (Table 1) or by variants in nuclear-encoded genes
DNA, Mitochondrial, Genetic Loci, Genetic Testing, Humans, Optic Atrophy, Hereditary, Leber, Sequence Analysis, DNA
This work was supported by the EuroGentest2 (Unit 2: “Genetic testing as part of health care”), a Coordination Action under FP7 (Grant Agreement Number 261469) and the European Society of Human Genetics. P.Y.-W.-M. is supported by a Clinician Scientist Fellowship Award (G1002570) from the Medical Research Council (MRC, UK). P.Y.-W.-M. also receives funding from Fight for Sight (UK), the UK National Institute of Health Research (NIHR) as part of the Rare Diseases Translational Research Collaboration, and the NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology. M.V.receives funding from Fight for Sight (UK), the UK National Institute of Health Research (NIHR) as part of the Rare Diseases Translational Research Collaboration and the National Eye Research Centre (NERC). MM gratefully acknowledges the support of the Wellcome Trust.
External DOI: https://doi.org/10.1038/s41431-018-0235-y
This record's URL: https://www.repository.cam.ac.uk/handle/1810/292713
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