IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing.
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| Title: | IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing. |
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| Authors: | Abdalla Elsayed MEA; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Barone V; Ophthalmology Complex Operative Unit, University Campus Bio-Medico, Rome, Italy., Kaukonen M; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Raybould MIJ; Oxford Protein Informatics Group, Department of Statistics, University of Oxford, Oxford, UK., MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Apr; Vol. 47 (2), pp. 172-178. Date of Electronic Publication: 2026 Jan 01. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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