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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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddaa166 |
