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A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

Ann J Johnston, Jing-Qiong Kang, Wangzhen Shen, William O Pickrell, Thomas D Cushion, Jeffrey Davies Orcid Logo, Kristin Baer, Jonathan Mullins Orcid Logo, Carrie L Hammond, Seo-Kyung Chung Orcid Logo, Rhys H Thomas, Cathy White, Phil E.M Smith, Robert L Macdonald, Mark Rees, Owen Pickrell Orcid Logo

Neurobiology of Disease

Swansea University Authors: Jeffrey Davies Orcid Logo, Jonathan Mullins Orcid Logo, Seo-Kyung Chung Orcid Logo, Mark Rees, Owen Pickrell Orcid Logo

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DOI (Published version): 10.1016/j.nbd.2013.12.013

Published in: Neurobiology of Disease
Published: 2014
URI: https://cronfa.swan.ac.uk/Record/cronfa17001
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first_indexed 2014-01-25T02:30:03Z
last_indexed 2018-02-09T04:50:13Z
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spelling 2014-01-24T23:03:10.5094449 v2 17001 2014-01-24 A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes 2cb3d1d96a7870a84d2f758e865172e6 0000-0002-4234-0033 Jeffrey Davies Jeffrey Davies true false 4cf2dddedbe1dacb506ec925fdbd5b40 0000-0003-0144-2962 Jonathan Mullins Jonathan Mullins true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false 2014-01-24 BMS Journal Article Neurobiology of Disease 31 12 2014 2014-12-31 10.1016/j.nbd.2013.12.013 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2014-01-24T23:03:10.5094449 2014-01-24T23:03:10.5094449 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Ann J Johnston 1 Jing-Qiong Kang 2 Wangzhen Shen 3 William O Pickrell 4 Thomas D Cushion 5 Jeffrey Davies 0000-0002-4234-0033 6 Kristin Baer 7 Jonathan Mullins 0000-0003-0144-2962 8 Carrie L Hammond 9 Seo-Kyung Chung 0000-0002-5008-8384 10 Rhys H Thomas 11 Cathy White 12 Phil E.M Smith 13 Robert L Macdonald 14 Mark Rees 15 Owen Pickrell 0000-0003-4396-5657 16
title A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
spellingShingle A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
Jeffrey Davies
Jonathan Mullins
Seo-Kyung Chung
Mark Rees
Owen Pickrell
title_short A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
title_full A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
title_fullStr A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
title_full_unstemmed A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
title_sort A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
author_id_str_mv 2cb3d1d96a7870a84d2f758e865172e6
4cf2dddedbe1dacb506ec925fdbd5b40
d99cbf3a557e9ee66556dfd95d66a5d8
10f39a4e9c2ee00d453cd84c10667ac8
1c3044b5ff7a6552ff5e8c9e3901c807
author_id_fullname_str_mv 2cb3d1d96a7870a84d2f758e865172e6_***_Jeffrey Davies
4cf2dddedbe1dacb506ec925fdbd5b40_***_Jonathan Mullins
d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung
10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
1c3044b5ff7a6552ff5e8c9e3901c807_***_Owen Pickrell
author Jeffrey Davies
Jonathan Mullins
Seo-Kyung Chung
Mark Rees
Owen Pickrell
author2 Ann J Johnston
Jing-Qiong Kang
Wangzhen Shen
William O Pickrell
Thomas D Cushion
Jeffrey Davies
Kristin Baer
Jonathan Mullins
Carrie L Hammond
Seo-Kyung Chung
Rhys H Thomas
Cathy White
Phil E.M Smith
Robert L Macdonald
Mark Rees
Owen Pickrell
format Journal article
container_title Neurobiology of Disease
publishDate 2014
institution Swansea University
doi_str_mv 10.1016/j.nbd.2013.12.013
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 0
active_str 0
published_date 2014-12-31T03:19:32Z
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score 11.013686

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