A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN

Rees, M. I., Baer, K., Ward, H., Coleman, Sharon Louise, Evans, I. L., Miller, J., Waldvogel, H., Faull, R. L. M., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Snell, R. G. 2001. A missense mutation of human Gephyrin (GPHN) is associated with Hyperekplexia and transcript isoform analysis re-defines the genomic structure of GPHN. American Journal of Human Genetics 69 (4) , p. 627.

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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:	25 Oct 2022 10:13
URI:	https://orca.cardiff.ac.uk/id/eprint/61444

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