The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

Mutations in fukutin related protein (FKRP) underlie a group of muscular dystrophies associated with the hypoglycosylation of α-dystroglycan (α-DG), a proportion of which show central nervous system involvement. Our original FKRP knock down mouse (FKRP(KD)) replicated many of the characteristics see...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Whitmore, Charlotte, Fernandez-Fuente, Marta, Booler, Helen, Parr, Callum, Kavishwar, Manoli, Ashraf, Attia, Lacey, Erica, Kim, Jihee, Terry, Rebecca, Ackroyd, Mark R., Wells, Kim E., Muntoni, Francesco, Wells, Dominic J., Brown, Susan C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5944840/
https://ncbi.nlm.nih.gov/pubmed/24234655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt577
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