Journal article 875 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
Abstract
Compound heterozygosity and nonsense mutations in the alpha 1-subunit of the inhibitory glycine receptor in hyperekplexia
| Published in: | Human Genetics |
|---|---|
| Published: |
2001
|
| URI: | https://cronfa.swan.ac.uk/Record/cronfa21002 |
| 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><firstname>Mark</firstname><surname>Rees</surname><name>Mark Rees</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2015-04-30</date><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><CollegeCode>COLLEGE CODE</CollegeCode><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><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 Journal Article Human Genetics 109 3 267 270 31 12 2001 2001-12-31 COLLEGE NANME COLLEGE CODE 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 |
2001-12-31T18:40:30Z |
| _version_ |
1821341312090112000 |
| score |
11.04748 |