Journal article 613 views
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).
Mark Rees,
Trevor Lewis,
Geert Mortier,
Russell Snell,
Peter Schofield,
Mike Owen
American Journal of Human Genetics, Volume: 67, Issue: 4, Pages: 391 - 393
Swansea University Author: Mark Rees
Abstract
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).
Published in: | American Journal of Human Genetics |
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Published: |
2000
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URI: | https://cronfa.swan.ac.uk/Record/cronfa38450 |
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2018-02-08T13:37:07.7670752 v2 38450 2018-02-08 A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2018-02-08 BMS Journal Article American Journal of Human Genetics 67 4 391 393 31 12 2000 2000-12-31 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2018-02-08T13:37:07.7670752 2018-02-08T12:44:19.0141968 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Mark Rees 1 Trevor Lewis 2 Geert Mortier 3 Russell Snell 4 Peter Schofield 5 Mike Owen 6 |
title |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
spellingShingle |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). Mark Rees |
title_short |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
title_full |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
title_fullStr |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
title_full_unstemmed |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
title_sort |
A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). |
author_id_str_mv |
10f39a4e9c2ee00d453cd84c10667ac8 |
author_id_fullname_str_mv |
10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees |
author |
Mark Rees |
author2 |
Mark Rees Trevor Lewis Geert Mortier Russell Snell Peter Schofield Mike Owen |
format |
Journal article |
container_title |
American Journal of Human Genetics |
container_volume |
67 |
container_issue |
4 |
container_start_page |
391 |
publishDate |
2000 |
institution |
Swansea University |
college_str |
Faculty of Medicine, Health and Life Sciences |
hierarchytype |
|
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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 |
2000-12-31T03:48:37Z |
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1763752350941446144 |
score |
11.037319 |