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REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.

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Title: REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
Authors: Agrawal SA; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Burgoyne T; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Eblimit A; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Bellingham J; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Parfitt DA; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Lane A; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Nichols R; Department of Ophthalmology., Asomugha C; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030-3411, USA., Hayes MJ; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Munro PM; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Xu M; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Wang K; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Futter CE; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Li Y; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Chen R; Department of Molecular and Human Genetics.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA., Cheetham ME; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
Source: Human molecular genetics [Hum Mol Genet] 2017 Jul 15; Vol. 26 (14), pp. 2667-2677.
Publication Type: Journal Article
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
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  Data: REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.
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              Text: 2017 Jul 15
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