SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
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| Title: | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. |
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| Authors: | Kuht HJ; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea., Maconachie GDE; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield S10 2RX, UK., Park SE; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea., Lee ST; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea., McLean R; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Sheth V; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Hisaund M; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Dawar B; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Sylvius N; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK., Mahmood U; Department of Ophthalmology, Hull and East Yorkshire Hospitals NHS Trust, Hull HU3 2JZ, UK., Proudlock FA; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK., Lim HT; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea., Thomas MG; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK. |
| Source: | Human molecular genetics [Hum Mol Genet] 2020 Nov 04; Vol. 29 (18), pp. 2989-3002. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32744312 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kuht+HJ%22">Kuht HJ</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Han+J%22">Han J</searchLink>; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea.<br /><searchLink fieldCode="AU" term="%22Maconachie+GDE%22">Maconachie GDE</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.; Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield S10 2RX, UK.<br /><searchLink fieldCode="AU" term="%22Park+SE%22">Park SE</searchLink>; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea.<br /><searchLink fieldCode="AU" term="%22Lee+ST%22">Lee ST</searchLink>; Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Korea.<br /><searchLink fieldCode="AU" term="%22McLean+R%22">McLean R</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Sheth+V%22">Sheth V</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Hisaund+M%22">Hisaund M</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Dawar+B%22">Dawar B</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Sylvius+N%22">Sylvius N</searchLink>; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, UK.<br /><searchLink fieldCode="AU" term="%22Mahmood+U%22">Mahmood U</searchLink>; Department of Ophthalmology, Hull and East Yorkshire Hospitals NHS Trust, Hull HU3 2JZ, UK.<br /><searchLink fieldCode="AU" term="%22Proudlock+FA%22">Proudlock FA</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Gottlob+I%22">Gottlob I</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK.<br /><searchLink fieldCode="AU" term="%22Lim+HT%22">Lim HT</searchLink>; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea.<br /><searchLink fieldCode="AU" term="%22Thomas+MG%22">Thomas MG</searchLink>; The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester - RKCSB, PO Box 65, Leicester LE2 7LX, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2020 Nov 04; Vol. 29 (18), pp. 2989-3002. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32744312 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/hmg/ddaa166 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2989 Titles: – TitleFull: SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kuht HJ – PersonEntity: Name: NameFull: Han J – PersonEntity: Name: NameFull: Maconachie GDE – PersonEntity: Name: NameFull: Park SE – PersonEntity: Name: NameFull: Lee ST – PersonEntity: Name: NameFull: McLean R – PersonEntity: Name: NameFull: Sheth V – PersonEntity: Name: NameFull: Hisaund M – PersonEntity: Name: NameFull: Dawar B – PersonEntity: Name: NameFull: Sylvius N – PersonEntity: Name: NameFull: Mahmood U – PersonEntity: Name: NameFull: Proudlock FA – PersonEntity: Name: NameFull: Gottlob I – PersonEntity: Name: NameFull: Lim HT – PersonEntity: Name: NameFull: Thomas MG IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 11 Text: 2020 Nov 04 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1460-2083 Numbering: – Type: volume Value: 29 – Type: issue Value: 18 Titles: – TitleFull: Human molecular genetics Type: main |
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