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

Rees, M. I., Lewis, T. M., Mortier, G., Snell, R. G., Schofield, P. R. and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2000. A transient hyperekplexia phenotype associated with compound heterozygote mutations in the human beta-subunit of the inhibitory glycine receptor (GLRB). American Journal of Human Genetics 67 (4) , p. 391.

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Abstract

Rees MI, Lewis TM, Mortier G, Snell RG, Schofield PR, Owen MJ

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Research Institutes & Centres > Neuroscience and Mental Health Research Institute (NMHII)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0002-9297
Last Modified:	31 Oct 2022 10:00
URI:	https://orca.cardiff.ac.uk/id/eprint/83187

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