No Cover Image

Journal article 708 views

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

F.I. Arrigoni, M. Matarin, P.J. Thompson, M. Michaelides, M.E. McClements, E. Redmond, L. Clarke, E. Ellins, S. Mohamed, I. Pavord, D.M. Hunt, A.T. Moore, J. Halcox, S.M. Sisodiya, Julian Halcox Orcid Logo

European Journal of Human Genetics, Volume: 19, Issue: 2, Pages: 131 - 137

Swansea University Author: Julian Halcox Orcid Logo

Full text not available from this repository: check for access using links below.

Check full text

DOI (Published version): 10.1038/ejhg.2010.147

Published in: European Journal of Human Genetics
ISSN: 1018-4813 1476-5438
Published: 2011
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa27282
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2016-04-21T01:31:18Z
last_indexed 2018-02-09T05:10:13Z
id cronfa27282
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2016-04-20T16:28:14.0811964</datestamp><bib-version>v2</bib-version><id>27282</id><entry>2016-04-20</entry><title>Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy</title><swanseaauthors><author><sid>3676f695eeda169d0f8c618adf27c04b</sid><ORCID>0000-0001-6926-2947</ORCID><firstname>Julian</firstname><surname>Halcox</surname><name>Julian Halcox</name><active>true</active><ethesisStudent>false</ethesisStudent></author></swanseaauthors><date>2016-04-20</date><deptcode>HDAT</deptcode><abstract/><type>Journal Article</type><journal>European Journal of Human Genetics</journal><volume>19</volume><journalNumber>2</journalNumber><paginationStart>131</paginationStart><paginationEnd>137</paginationEnd><publisher/><issnPrint>1018-4813</issnPrint><issnElectronic>1476-5438</issnElectronic><keywords/><publishedDay>31</publishedDay><publishedMonth>12</publishedMonth><publishedYear>2011</publishedYear><publishedDate>2011-12-31</publishedDate><doi>10.1038/ejhg.2010.147</doi><url>http://www.scopus.com/inward/record.url?eid=2-s2.0-78651387937&amp;amp;partnerID=MN8TOARS</url><notes/><college>COLLEGE NANME</college><department>Health Data Science</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>HDAT</DepartmentCode><institution>Swansea University</institution><apcterm/><lastEdited>2016-04-20T16:28:14.0811964</lastEdited><Created>2016-04-20T16:28:13.8627866</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>F.I.</firstname><surname>Arrigoni</surname><order>1</order></author><author><firstname>M.</firstname><surname>Matarin</surname><order>2</order></author><author><firstname>P.J.</firstname><surname>Thompson</surname><order>3</order></author><author><firstname>M.</firstname><surname>Michaelides</surname><order>4</order></author><author><firstname>M.E.</firstname><surname>McClements</surname><order>5</order></author><author><firstname>E.</firstname><surname>Redmond</surname><order>6</order></author><author><firstname>L.</firstname><surname>Clarke</surname><order>7</order></author><author><firstname>E.</firstname><surname>Ellins</surname><order>8</order></author><author><firstname>S.</firstname><surname>Mohamed</surname><order>9</order></author><author><firstname>I.</firstname><surname>Pavord</surname><order>10</order></author><author><firstname>D.M.</firstname><surname>Hunt</surname><order>11</order></author><author><firstname>A.T.</firstname><surname>Moore</surname><order>12</order></author><author><firstname>J.</firstname><surname>Halcox</surname><order>13</order></author><author><firstname>S.M.</firstname><surname>Sisodiya</surname><order>14</order></author><author><firstname>Julian</firstname><surname>Halcox</surname><orcid>0000-0001-6926-2947</orcid><order>15</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling 2016-04-20T16:28:14.0811964 v2 27282 2016-04-20 Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy 3676f695eeda169d0f8c618adf27c04b 0000-0001-6926-2947 Julian Halcox Julian Halcox true false 2016-04-20 HDAT Journal Article European Journal of Human Genetics 19 2 131 137 1018-4813 1476-5438 31 12 2011 2011-12-31 10.1038/ejhg.2010.147 http://www.scopus.com/inward/record.url?eid=2-s2.0-78651387937&amp;partnerID=MN8TOARS COLLEGE NANME Health Data Science COLLEGE CODE HDAT Swansea University 2016-04-20T16:28:14.0811964 2016-04-20T16:28:13.8627866 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine F.I. Arrigoni 1 M. Matarin 2 P.J. Thompson 3 M. Michaelides 4 M.E. McClements 5 E. Redmond 6 L. Clarke 7 E. Ellins 8 S. Mohamed 9 I. Pavord 10 D.M. Hunt 11 A.T. Moore 12 J. Halcox 13 S.M. Sisodiya 14 Julian Halcox 0000-0001-6926-2947 15
title Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
spellingShingle Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
Julian Halcox
title_short Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
title_full Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
title_fullStr Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
title_full_unstemmed Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
title_sort Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
author_id_str_mv 3676f695eeda169d0f8c618adf27c04b
author_id_fullname_str_mv 3676f695eeda169d0f8c618adf27c04b_***_Julian Halcox
author Julian Halcox
author2 F.I. Arrigoni
M. Matarin
P.J. Thompson
M. Michaelides
M.E. McClements
E. Redmond
L. Clarke
E. Ellins
S. Mohamed
I. Pavord
D.M. Hunt
A.T. Moore
J. Halcox
S.M. Sisodiya
Julian Halcox
format Journal article
container_title European Journal of Human Genetics
container_volume 19
container_issue 2
container_start_page 131
publishDate 2011
institution Swansea University
issn 1018-4813
1476-5438
doi_str_mv 10.1038/ejhg.2010.147
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
url http://www.scopus.com/inward/record.url?eid=2-s2.0-78651387937&amp;partnerID=MN8TOARS
document_store_str 0
active_str 0
published_date 2011-12-31T03:33:00Z
_version_ 1763751368868233216
score 11.021648