Journal article 576 views
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
Abstract
A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN.
| Published in: | AMERICAN JOURNAL OF HUMAN GENETICS |
|---|---|
| Published: |
2001
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa38449 |
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| College: |
Faculty of Medicine, Health and Life Sciences |
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| Issue: |
4 |
| Start Page: |
627 |
| End Page: |
628 |