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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.
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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  Data: Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Backlund+MP%22">Backlund MP</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Gasparian+SA%22">Gasparian SA</searchLink>; Department of Ophthalmology, Loma Linda University, Loma Linda, California, USA.<br /><searchLink fieldCode="AU" term="%22Repo+PE%22">Repo PE</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kangas+H%22">Kangas H</searchLink>; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Donner+K%22">Donner K</searchLink>; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Putkuri+H%22">Putkuri H</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Seitsonen+S%22">Seitsonen S</searchLink>; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Paavo+M%22">Paavo M</searchLink>; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Kivelä+TT%22">Kivelä TT</searchLink>; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Sierpina+DI%22">Sierpina DI</searchLink>; Department of Ophthalmology, Loma Linda University, Loma Linda, California, USA.<br /><searchLink fieldCode="AU" term="%22Turunen+JA%22">Turunen JA</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2026 Feb; Vol. 47 (1), pp. 43-50. <i>Date of Electronic Publication: </i>2025 Oct 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Feb
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