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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: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
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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