Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
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| Title: | Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene. |
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| Authors: | Fernández-Suárez, Elena1,2 (AUTHOR), González-del Pozo, María1,2 (AUTHOR), Méndez-Vidal, Cristina1,2 (AUTHOR), Martín-Sánchez, Marta1,2 (AUTHOR), Mena, Marcela1,2 (AUTHOR), de la Morena-Barrio, Belén3 (AUTHOR), Corral, Javier3 (AUTHOR), Borrego, Salud1,2 (AUTHOR) salud.borrego.sspa@juntadeandalucia.es, Antiñolo, Guillermo1,2 (AUTHOR) gantinolo@us.es |
| Source: | Mobile DNA. 5/4/2024, Vol. 15 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 177045915 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Fernández-Suárez%2C+Elena%22">Fernández-Suárez, Elena</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22González-del+Pozo%2C+María%22">González-del Pozo, María</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Méndez-Vidal%2C+Cristina%22">Méndez-Vidal, Cristina</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martín-Sánchez%2C+Marta%22">Martín-Sánchez, Marta</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mena%2C+Marcela%22">Mena, Marcela</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22de+la+Morena-Barrio%2C+Belén%22">de la Morena-Barrio, Belén</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Corral%2C+Javier%22">Corral, Javier</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Borrego%2C+Salud%22">Borrego, Salud</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> salud.borrego.sspa@juntadeandalucia.es</i><br /><searchLink fieldCode="AR" term="%22Antiñolo%2C+Guillermo%22">Antiñolo, Guillermo</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> gantinolo@us.es</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Mobile+DNA%22">Mobile DNA</searchLink>. 5/4/2024, Vol. 15 Issue 1, p1-12. 12p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=177045915 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13100-024-00320-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fernández-Suárez, Elena – PersonEntity: Name: NameFull: González-del Pozo, María – PersonEntity: Name: NameFull: Méndez-Vidal, Cristina – PersonEntity: Name: NameFull: Martín-Sánchez, Marta – PersonEntity: Name: NameFull: Mena, Marcela – PersonEntity: Name: NameFull: de la Morena-Barrio, Belén – PersonEntity: Name: NameFull: Corral, Javier – PersonEntity: Name: NameFull: Borrego, Salud – PersonEntity: Name: NameFull: Antiñolo, Guillermo IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 05 Text: 5/4/2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 17598753 Numbering: – Type: volume Value: 15 – Type: issue Value: 1 Titles: – TitleFull: Mobile DNA Type: main |
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