Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
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| Title: | Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low? |
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| Authors: | Mackey DA; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; The University of Western Australia, Centre for Ophthalmology and Visual Science, Lions Eye Institute, Nedlands, 6009 WA, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia. Electronic address: david.mackey@lei.org.au., Ong JS; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., MacGregor S; Statistical Genetics Laboratory, Population Health Department, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., Whiteman DC; Cancer Control Group, QIMR Berghofer Medical Research Institute, Brisbane, 4006 QLD, Australia., Craig JE; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia., Lopez Sanchez MIG; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Kearns LS; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Clarke L; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., McGuinness MB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Meteoukki W; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Samuel S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia., Ruddle JB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia; Ophthalmology, University of Melbourne, Department of Surgery, Parkville, 3010 VIC, Australia., Chen C; Flinders Medical Centre, Flinders University, Bedford Park, SA 5042, Australia., Fraser CL; Save Sight Institute, Discipline of Ophthalmology, Faculty of Health and Medicine, The University of Sydney, Sydney, 2000 NSW, Australia., Harrison J; Department of Ophthalmology, Royal Brisbane and Women's Hospital, Herston, 4006 QLD Australia., Howell N; Neil Howell, San Diego, CA, USA., Hewitt AW; Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, 7000 TAS, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, 3002 VIC, Australia. |
| Source: | American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 170-176. Date of Electronic Publication: 2022 Dec 23. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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