Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
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| Title: | Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals. |
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| Authors: | Major TC; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Arany ES; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Schon K; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom., Simo M; University Clinic of Neurology, Semmelweis University, Budapest, Hungary., Karcagi V; Istenhegyi Genetic Diagnostic Center, Budapest, Hungary., van den Ameele J; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Yu Wai Man P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; NIHR Biomedical Research Centre, Moorfields Eye Hospital & UCL Institute of Ophthalmology, London, United Kingdom.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom., Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Olimpio C; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom. |
| Source: | Frontiers in neurology [Front Neurol] 2023 Dec 01; Vol. 14, pp. 1292320. Date of Electronic Publication: 2023 Dec 01 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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