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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey, David A; Ong, Jue-Sheng; MacGregor, Stuart; Whiteman, David C; Craig, Jamie E; Lopez Sanchez, M Isabel G; Kearns, Lisa S; Staffieri, Sandra E; Clarke, Linda; McGuinness, Myra B; Meteoukki, Wafaa; Samuel, Sona; Ruddle, Jonathan B; Chen, Celia; Fraser, Clare L; Harrison, John; Howell, Neil; Hewitt, Alex W.
Afiliación
  • 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
  • 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.
Am J Hum Genet ; 110(1): 170-176, 2023 01 05.
Article en En | MEDLINE | ID: mdl-36565701

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Atrofia Óptica Hereditaria de Leber Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Oceania Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Mitocondrial / Atrofia Óptica Hereditaria de Leber Tipo de estudio: Etiology_studies / Observational_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Oceania Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article