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Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.

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Title: Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Authors: Backlund MP; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Repo P; 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., Sankila EM; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Krootila J; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Paavo M; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kivelä TT; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., 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: Human mutation [Hum Mutat] 2024 Feb 09; Vol. 2024, pp. 6580561. Date of Electronic Publication: 2024 Feb 09 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
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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="%22Repo+P%22">Repo P</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="%22Sankila+EM%22">Sankila EM</searchLink>; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Krootila+J%22">Krootila J</searchLink>; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, 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="%22Wartiovaara+K%22">Wartiovaara K</searchLink>; Department of Clinical Genetics, 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="%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="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2024 Feb 09; Vol. 2024, pp. 6580561. <i>Date of Electronic Publication: </i>2024 Feb 09 (<i>Print Publication: </i>2024).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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              Text: 2024 Feb 09
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