Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene ; volume:15 ; number:1 ; day:4 ; month:5 ; year:2024 ; pages:1-12 ; date:12.2024
Mobile DNA ; 15, Heft 1 (4.5.2024), 1-12, 12.2024
- Creator
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Fernández-Suárez, Elena
González-del Pozo, María
Méndez-Vidal, Cristina
Martín-Sánchez, Marta
Mena, Marcela
de la Morena-Barrio, Belén
Corral, Javier
Borrego, Salud
Antiñolo, Guillermo
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s13100-024-00320-1
- URN
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urn:nbn:de:101:1-2407151347230.991008599167
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:00 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Fernández-Suárez, Elena
- González-del Pozo, María
- Méndez-Vidal, Cristina
- Martín-Sánchez, Marta
- Mena, Marcela
- de la Morena-Barrio, Belén
- Corral, Javier
- Borrego, Salud
- Antiñolo, Guillermo
- SpringerLink (Online service)
Other Objects (12)
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene