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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

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Title: Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Authors: Waseem NH; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom., Low S; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.; Department of Ophthalmology, St. Thomas' Hospital, Westminster Bridge Road, London, United Kingdom., Shah AZ; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Avisetti D; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom., Ostergaard P; Medical Genetics Unit, St. George's University of London, Cranmer Terrace, London, United Kingdom., Simpson M; Genetics and Molecular Medicine, King's College London, Great Maze Pond, London, United Kingdom., Niemiec KA; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom., Martin-Martin B; Blizard Advanced Light Microscopy, Blizard Institute, Queen Mary University of London, London, United Kingdom., Aldehlawi H; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom., Usman S; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom., Lee PS; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Khawaja AP; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Ruddle JB; Department of Ophthalmology, University of Melbourne, Victoria, Australia., Shah A; Department of Ophthalmology, Royal Free Hospital NHS Foundation Trust, Pond Street, London, United Kingdom., Sackey E; Medical Genetics Unit, St. George's University of London, Cranmer Terrace, London, United Kingdom., Day A; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom., Jiang Y; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom., Swinfield G; Society of Genealogists, Goswell Road, London, United Kingdom., Viswanathan A; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Alfano G; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Chakarova C; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Cordell HJ; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom., Garway-Heath DF; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Khaw PT; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Bhattacharya SS; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom., Waseem A; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom., Foster PJ; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.
Source: PLoS genetics [PLoS Genet] 2020 Apr 27; Vol. 16 (4), pp. e1008721. Date of Electronic Publication: 2020 Apr 27 (Print Publication: 2020).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
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  Data: <searchLink fieldCode="AU" term="%22Waseem+NH%22">Waseem NH</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Low+S%22">Low S</searchLink>; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.; Department of Ophthalmology, St. Thomas' Hospital, Westminster Bridge Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Shah+AZ%22">Shah AZ</searchLink>; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Avisetti+D%22">Avisetti D</searchLink>; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ostergaard+P%22">Ostergaard P</searchLink>; Medical Genetics Unit, St. George's University of London, Cranmer Terrace, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Simpson+M%22">Simpson M</searchLink>; Genetics and Molecular Medicine, King's College London, Great Maze Pond, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Niemiec+KA%22">Niemiec KA</searchLink>; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Martin-Martin+B%22">Martin-Martin B</searchLink>; Blizard Advanced Light Microscopy, Blizard Institute, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Aldehlawi+H%22">Aldehlawi H</searchLink>; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Usman+S%22">Usman S</searchLink>; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lee+PS%22">Lee PS</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Khawaja+AP%22">Khawaja AP</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ruddle+JB%22">Ruddle JB</searchLink>; Department of Ophthalmology, University of Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Shah+A%22">Shah A</searchLink>; Department of Ophthalmology, Royal Free Hospital NHS Foundation Trust, Pond Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sackey+E%22">Sackey E</searchLink>; Medical Genetics Unit, St. George's University of London, Cranmer Terrace, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Day+A%22">Day A</searchLink>; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jiang+Y%22">Jiang Y</searchLink>; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Swinfield+G%22">Swinfield G</searchLink>; Society of Genealogists, Goswell Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Viswanathan+A%22">Viswanathan A</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alfano+G%22">Alfano G</searchLink>; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chakarova+C%22">Chakarova C</searchLink>; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cordell+HJ%22">Cordell HJ</searchLink>; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Garway-Heath+DF%22">Garway-Heath DF</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Khaw+PT%22">Khaw PT</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bhattacharya+SS%22">Bhattacharya SS</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Waseem+A%22">Waseem A</searchLink>; Centre for Oral Immunobiology and Regenerative Medicine, Institute of Dentistry, Queen Mary University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Foster+PJ%22">Foster PJ</searchLink>; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, City Road, London, United Kingdom.; UCL Institute of Ophthalmology, Bath Street, London, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2020 Apr 27; Vol. 16 (4), pp. e1008721. <i>Date of Electronic Publication: </i>2020 Apr 27 (<i>Print Publication: </i>2020).
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