Journal article 934 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
European Journal of Human Genetics, Volume: 19, Issue: 2, Pages: 131 - 137
Swansea University Author:
Julian Halcox
Full text not available from this repository: check for access using links below.
DOI (Published version): 10.1038/ejhg.2010.147
Abstract
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
| 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 |
| 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>MEDS</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;partnerID=MN8TOARS</url><notes/><college>COLLEGE NANME</college><department>Medical School</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>MEDS</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 MEDS 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&partnerID=MN8TOARS COLLEGE NANME Medical School COLLEGE CODE MEDS 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&partnerID=MN8TOARS |
| document_store_str |
0 |
| active_str |
0 |
| published_date |
2011-12-31T03:50:29Z |
| _version_ |
1851363509688860672 |
| score |
11.089572 |

