A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan

Brickington, M., Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Ponting, C.P., Estournet, B., Romero, N., Voit, T., Sewry, C. A., Guincheney, P. and Muntoni, F. 2001. A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. American Journal of Human Genetics 69 (4) , p. 229.

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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier Inc.
ISSN:	0002-9297
Last Modified:	31 Oct 2022 09:18
URI:	https://orca.cardiff.ac.uk/id/eprint/80528

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