Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan

Brockington, Martin, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale and Muntoni, Francesco 2001. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin 2 deficiency and abnormal glycosylation of -dystroglycan. American Journal of Human Genetics 69 (6) , pp. 1198-1209. 10.1086/324412

Full text not available from this repository.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Research Institutes & Centres > MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
ISSN:	0002-9297
Last Modified:	17 Oct 2022 08:35
URI:	https://orca.cardiff.ac.uk/id/eprint/554

Citation Data

Cited 545 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item