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A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.

Mark Rees, Kristin Baer, Hamish Ward, Sharon Coleman, Luc Evans, Jan Miller, Henry Waldvogel, Richard Faull, Mike Owen, Russell Snell

AMERICAN JOURNAL OF HUMAN GENETICS, Volume: 69, Issue: 4, Pages: 627 - 628

Swansea University Author: Mark Rees

Published in: AMERICAN JOURNAL OF HUMAN GENETICS
Published: 2001
URI: https://cronfa.swan.ac.uk/Record/cronfa38449
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first_indexed 2018-02-08T14:36:26Z
last_indexed 2018-02-09T05:32:59Z
id cronfa38449
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spelling 2018-02-08T12:36:47.0461286 v2 38449 2018-02-08 A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN. 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2018-02-08 BMS Journal Article AMERICAN JOURNAL OF HUMAN GENETICS 69 4 627 628 31 12 2001 2001-12-31 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2018-02-08T12:36:47.0461286 2018-02-08T12:34:40.4663596 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Mark Rees 1 Kristin Baer 2 Hamish Ward 3 Sharon Coleman 4 Luc Evans 5 Jan Miller 6 Henry Waldvogel 7 Richard Faull 8 Mike Owen 9 Russell Snell 10
title A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
spellingShingle A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
Mark Rees
title_short A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
title_full A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
title_fullStr A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
title_full_unstemmed A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
title_sort A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees
author Mark Rees
author2 Mark Rees
Kristin Baer
Hamish Ward
Sharon Coleman
Luc Evans
Jan Miller
Henry Waldvogel
Richard Faull
Mike Owen
Russell Snell
format Journal article
container_title AMERICAN JOURNAL OF HUMAN GENETICS
container_volume 69
container_issue 4
container_start_page 627
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 2001-12-31T03:48:37Z
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score 10.999524

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