Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

Rees, M. I., Lewis, T. M., Vafa, B., Ferrie, C., Corry, P., Muntoni, F, Jungbluth, H., Stephenson, J. B., Kerr, Michael Patrick, Snell, R. G., Schofield, P.R. and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2001. Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet 109 (3) , pp. 267-270.

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Abstract

Kerr M, 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 > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Last Modified:	31 Oct 2022 09:19
URI:	https://orca.cardiff.ac.uk/id/eprint/80573

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