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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: Medicine
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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