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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., 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: 04 Jun 2017 08:34
URI: http://orca-mwe.cf.ac.uk/id/eprint/80528

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