Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy.
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| Title: | Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy. |
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| Authors: | Backlund MP; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Gasparian SA; Department of Ophthalmology, Loma Linda University, Loma Linda, California, USA., Repo PE; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kangas H; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Donner K; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Putkuri H; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Seitsonen S; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Paavo M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kivelä TT; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Sierpina DI; Department of Ophthalmology, Loma Linda University, Loma Linda, California, USA., Turunen JA; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Feb; Vol. 47 (1), pp. 43-50. Date of Electronic Publication: 2025 Oct 05. |
| 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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