No Cover Image

Journal article 775 views

Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia

Mark Rees, Trevor Lewis, Behnaz Vafa, Colin Ferrie, Peter Corry, Fransesco Muntoni, Heinz Jungluth, John B Stephenson, Mike Kerr, Russell Snell, Mike J Owen

Human Genetics, Volume: 109, Issue: 3, Pages: 267 - 270

Swansea University Author: Mark Rees

Published in: Human Genetics
Published: 2001
URI: https://cronfa.swan.ac.uk/Record/cronfa21002
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2015-05-01T02:08:59Z
last_indexed 2018-02-09T04:58:05Z
id cronfa21002
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2015-04-30T12:29:11.8407207</datestamp><bib-version>v2</bib-version><id>21002</id><entry>2015-04-30</entry><title>Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia</title><swanseaauthors><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><ORCID/><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2015-04-30</date><deptcode>BMS</deptcode><abstract></abstract><type>Journal Article</type><journal>Human Genetics</journal><volume>109</volume><journalNumber>3</journalNumber><paginationStart>267</paginationStart><paginationEnd>270</paginationEnd><publisher/><keywords/><publishedDay>31</publishedDay><publishedMonth>12</publishedMonth><publishedYear>2001</publishedYear><publishedDate>2001-12-31</publishedDate><doi/><url/><notes></notes><college>COLLEGE NANME</college><department>Biomedical Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>BMS</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2015-04-30T12:29:11.8407207</lastEdited><Created>2015-04-30T12:21:53.6410851</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><orcid/><order>1</order></author><author><firstname>Trevor</firstname><surname>Lewis</surname><order>2</order></author><author><firstname>Behnaz</firstname><surname>Vafa</surname><order>3</order></author><author><firstname>Colin</firstname><surname>Ferrie</surname><order>4</order></author><author><firstname>Peter</firstname><surname>Corry</surname><order>5</order></author><author><firstname>Fransesco</firstname><surname>Muntoni</surname><order>6</order></author><author><firstname>Heinz</firstname><surname>Jungluth</surname><order>7</order></author><author><firstname>John B</firstname><surname>Stephenson</surname><order>8</order></author><author><firstname>Mike</firstname><surname>Kerr</surname><order>9</order></author><author><firstname>Russell</firstname><surname>Snell</surname><order>10</order></author><author><firstname>Mike J</firstname><surname>Owen</surname><order>11</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2015-04-30T12:29:11.8407207 v2 21002 2015-04-30 Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2015-04-30 BMS Journal Article Human Genetics 109 3 267 270 31 12 2001 2001-12-31 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2015-04-30T12:29:11.8407207 2015-04-30T12:21:53.6410851 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Mark Rees 1 Trevor Lewis 2 Behnaz Vafa 3 Colin Ferrie 4 Peter Corry 5 Fransesco Muntoni 6 Heinz Jungluth 7 John B Stephenson 8 Mike Kerr 9 Russell Snell 10 Mike J Owen 11
title Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
spellingShingle Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
Mark Rees
title_short Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
title_full Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
title_fullStr Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
title_full_unstemmed Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
title_sort Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
author Mark Rees
author2 Mark Rees
Trevor Lewis
Behnaz Vafa
Colin Ferrie
Peter Corry
Fransesco Muntoni
Heinz Jungluth
John B Stephenson
Mike Kerr
Russell Snell
Mike J Owen
format Journal article
container_title Human Genetics
container_volume 109
container_issue 3
container_start_page 267
publishDate 2001
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 2001-12-31T03:24:52Z
_version_ 1763750856562311168
score 11.012678