No Cover Image

Journal article 923 views 137 downloads

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

E Carta, S.-K Chung, V. M James, A Robinson, J. L Gill, N Remy, J.-F Vanbellinghen, C. J. G Drew, S Cagdas, D Cameron, F. M Cowan, M. Del Toro, G. E Graham, A. Y Manzur, A Masri, S Rivera, E Scalais, R Shiang, K Sinclair, C. A Stuart, M. A. J Tijssen, G Wise, S. M Zuberi, K Harvey, B. R Pearce, M Topf, R. H Thomas, S Supplisson, M. I Rees, R. J Harvey, Mark Rees, Seo-Kyung Chung Orcid Logo, Rhys Thomas

Journal of Biological Chemistry, Volume: 287, Issue: 34, Pages: 28975 - 28985

Swansea University Authors: Mark Rees, Seo-Kyung Chung Orcid Logo, Rhys Thomas

Check full text

DOI (Published version): 10.1074/jbc.M112.372094

Published in: Journal of Biological Chemistry
ISSN: 0021-9258 1083-351X
Published: 2012
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa13961
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2014-01-18T02:30:02Z
last_indexed 2019-07-16T19:58:55Z
id cronfa13961
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2019-07-16T15:48:52.6739474</datestamp><bib-version>v2</bib-version><id>13961</id><entry>2013-01-21</entry><title>Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease</title><swanseaauthors><author><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><ORCID/><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>d99cbf3a557e9ee66556dfd95d66a5d8</sid><ORCID>0000-0002-5008-8384</ORCID><firstname>Seo-Kyung</firstname><surname>Chung</surname><name>Seo-Kyung Chung</name><active>true</active><ethesisStudent>false</ethesisStudent></author><author><sid>a72f54fb5e66054a91c600a464a9f1b5</sid><firstname>Rhys</firstname><surname>Thomas</surname><name>Rhys Thomas</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2013-01-21</date><deptcode>BMS</deptcode><abstract></abstract><type>Journal Article</type><journal>Journal of Biological Chemistry</journal><volume>287</volume><journalNumber>34</journalNumber><paginationStart>28975</paginationStart><paginationEnd>28985</paginationEnd><publisher/><issnPrint>0021-9258</issnPrint><issnElectronic>1083-351X</issnElectronic><keywords/><publishedDay>14</publishedDay><publishedMonth>6</publishedMonth><publishedYear>2012</publishedYear><publishedDate>2012-06-14</publishedDate><doi>10.1074/jbc.M112.372094</doi><url/><notes/><college>COLLEGE NANME</college><department>Biomedical Sciences</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>BMS</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2019-07-16T15:48:52.6739474</lastEdited><Created>2013-01-21T22:41:51.5142915</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>E</firstname><surname>Carta</surname><order>1</order></author><author><firstname>S.-K</firstname><surname>Chung</surname><order>2</order></author><author><firstname>V. M</firstname><surname>James</surname><order>3</order></author><author><firstname>A</firstname><surname>Robinson</surname><order>4</order></author><author><firstname>J. L</firstname><surname>Gill</surname><order>5</order></author><author><firstname>N</firstname><surname>Remy</surname><order>6</order></author><author><firstname>J.-F</firstname><surname>Vanbellinghen</surname><order>7</order></author><author><firstname>C. J. G</firstname><surname>Drew</surname><order>8</order></author><author><firstname>S</firstname><surname>Cagdas</surname><order>9</order></author><author><firstname>D</firstname><surname>Cameron</surname><order>10</order></author><author><firstname>F. M</firstname><surname>Cowan</surname><order>11</order></author><author><firstname>M. Del</firstname><surname>Toro</surname><order>12</order></author><author><firstname>G. E</firstname><surname>Graham</surname><order>13</order></author><author><firstname>A. Y</firstname><surname>Manzur</surname><order>14</order></author><author><firstname>A</firstname><surname>Masri</surname><order>15</order></author><author><firstname>S</firstname><surname>Rivera</surname><order>16</order></author><author><firstname>E</firstname><surname>Scalais</surname><order>17</order></author><author><firstname>R</firstname><surname>Shiang</surname><order>18</order></author><author><firstname>K</firstname><surname>Sinclair</surname><order>19</order></author><author><firstname>C. A</firstname><surname>Stuart</surname><order>20</order></author><author><firstname>M. A. J</firstname><surname>Tijssen</surname><order>21</order></author><author><firstname>G</firstname><surname>Wise</surname><order>22</order></author><author><firstname>S. M</firstname><surname>Zuberi</surname><order>23</order></author><author><firstname>K</firstname><surname>Harvey</surname><order>24</order></author><author><firstname>B. R</firstname><surname>Pearce</surname><order>25</order></author><author><firstname>M</firstname><surname>Topf</surname><order>26</order></author><author><firstname>R. H</firstname><surname>Thomas</surname><order>27</order></author><author><firstname>S</firstname><surname>Supplisson</surname><order>28</order></author><author><firstname>M. I</firstname><surname>Rees</surname><order>29</order></author><author><firstname>R. J</firstname><surname>Harvey</surname><order>30</order></author><author><firstname>Mark</firstname><surname>Rees</surname><orcid/><order>31</order></author><author><firstname>Seo-Kyung</firstname><surname>Chung</surname><orcid>0000-0002-5008-8384</orcid><order>32</order></author><author><firstname>Rhys</firstname><surname>Thomas</surname><order>33</order></author></authors><documents><document><filename>0013961-16072019154829.pdf</filename><originalFilename>Publication69GlyT22ndMajorGeneinHPX.pdf</originalFilename><uploaded>2019-07-16T15:48:29.9570000</uploaded><type>Output</type><contentLength>3467103</contentLength><contentType>application/pdf</contentType><version>Version of Record</version><cronfaStatus>true</cronfaStatus><embargoDate>2019-06-16T00:00:00.0000000</embargoDate><copyrightCorrect>true</copyrightCorrect><language>eng</language></document></documents><OutputDurs/></rfc1807>
spelling 2019-07-16T15:48:52.6739474 v2 13961 2013-01-21 Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false a72f54fb5e66054a91c600a464a9f1b5 Rhys Thomas Rhys Thomas true false 2013-01-21 BMS Journal Article Journal of Biological Chemistry 287 34 28975 28985 0021-9258 1083-351X 14 6 2012 2012-06-14 10.1074/jbc.M112.372094 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2019-07-16T15:48:52.6739474 2013-01-21T22:41:51.5142915 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine E Carta 1 S.-K Chung 2 V. M James 3 A Robinson 4 J. L Gill 5 N Remy 6 J.-F Vanbellinghen 7 C. J. G Drew 8 S Cagdas 9 D Cameron 10 F. M Cowan 11 M. Del Toro 12 G. E Graham 13 A. Y Manzur 14 A Masri 15 S Rivera 16 E Scalais 17 R Shiang 18 K Sinclair 19 C. A Stuart 20 M. A. J Tijssen 21 G Wise 22 S. M Zuberi 23 K Harvey 24 B. R Pearce 25 M Topf 26 R. H Thomas 27 S Supplisson 28 M. I Rees 29 R. J Harvey 30 Mark Rees 31 Seo-Kyung Chung 0000-0002-5008-8384 32 Rhys Thomas 33 0013961-16072019154829.pdf Publication69GlyT22ndMajorGeneinHPX.pdf 2019-07-16T15:48:29.9570000 Output 3467103 application/pdf Version of Record true 2019-06-16T00:00:00.0000000 true eng
title Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
spellingShingle Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
Mark Rees
Seo-Kyung Chung
Rhys Thomas
title_short Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
title_full Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
title_fullStr Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
title_full_unstemmed Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
title_sort Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
d99cbf3a557e9ee66556dfd95d66a5d8
a72f54fb5e66054a91c600a464a9f1b5
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung
a72f54fb5e66054a91c600a464a9f1b5_***_Rhys Thomas
author Mark Rees
Seo-Kyung Chung
Rhys Thomas
author2 E Carta
S.-K Chung
V. M James
A Robinson
J. L Gill
N Remy
J.-F Vanbellinghen
C. J. G Drew
S Cagdas
D Cameron
F. M Cowan
M. Del Toro
G. E Graham
A. Y Manzur
A Masri
S Rivera
E Scalais
R Shiang
K Sinclair
C. A Stuart
M. A. J Tijssen
G Wise
S. M Zuberi
K Harvey
B. R Pearce
M Topf
R. H Thomas
S Supplisson
M. I Rees
R. J Harvey
Mark Rees
Seo-Kyung Chung
Rhys Thomas
format Journal article
container_title Journal of Biological Chemistry
container_volume 287
container_issue 34
container_start_page 28975
publishDate 2012
institution Swansea University
issn 0021-9258
1083-351X
doi_str_mv 10.1074/jbc.M112.372094
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 1
active_str 0
published_date 2012-06-14T03:15:58Z
_version_ 1763750297053691904
score 11.016392

Similar Items