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A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB).

Mark Rees, Trevor Lewis, Geert Mortier, Russell Snell, Peter Schofield, Mike Owen

American Journal of Human Genetics, Volume: 67, Issue: 4, Pages: 391 - 393

Swansea University Author: Mark Rees

Published in: American Journal of Human Genetics
Published: 2000
URI: https://cronfa.swan.ac.uk/Record/cronfa38450
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College: Faculty of Medicine, Health and Life Sciences
Issue: 4
Start Page: 391
End Page: 393