A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).

Rees, Mark; Lewis, Trevor; Mortier, Geert; Snell, Russell; Schofield, Peter; Owen, Mike

doi:https://doi.org/

Journal article 866 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

Published in:	American Journal of Human Genetics
Published:	2000
URI:	https://cronfa.swan.ac.uk/Record/cronfa38450

first_indexed	2018-02-08T14:36:26Z
last_indexed	2018-02-09T05:32:59Z
id	cronfa38450
recordtype	SURis
fullrecord	<?xml version="1.0"?><rfc1807><datestamp>2018-02-08T13:37:07.7670752</datestamp><bib-version>v2</bib-version><id>38450</id><entry>2018-02-08</entry><title>A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).</title><swanseaauthors><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2018-02-08</date><abstract/><type>Journal Article</type><journal>American Journal of Human Genetics</journal><volume>67</volume><journalNumber>4</journalNumber><paginationStart>391</paginationStart><paginationEnd>393</paginationEnd><publisher/><keywords/><publishedDay>31</publishedDay><publishedMonth>12</publishedMonth><publishedYear>2000</publishedYear><publishedDate>2000-12-31</publishedDate><doi/><url/><notes/><college>COLLEGE NANME</college><CollegeCode>COLLEGE CODE</CollegeCode><institution>Swansea University</institution><apcterm/><lastEdited>2018-02-08T13:37:07.7670752</lastEdited><Created>2018-02-08T12:44:19.0141968</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Medicine</level></path><authors><author><firstname>Mark</firstname><surname>Rees</surname><order>1</order></author><author><firstname>Trevor</firstname><surname>Lewis</surname><order>2</order></author><author><firstname>Geert</firstname><surname>Mortier</surname><order>3</order></author><author><firstname>Russell</firstname><surname>Snell</surname><order>4</order></author><author><firstname>Peter</firstname><surname>Schofield</surname><order>5</order></author><author><firstname>Mike</firstname><surname>Owen</surname><order>6</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling	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 Journal Article American Journal of Human Genetics 67 4 391 393 31 12 2000 2000-12-31 COLLEGE NANME COLLEGE CODE 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
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	2000-12-31T04:18:05Z
_version_	1851093455482126336
score	11.089386

A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).

Similar Items