Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies

Collagen VI is a non-fibrillar collagen present in the extracellular matrix (ECM) as a complex polymer; the mainly expressed form is composed of α1, α2 and α3 chains; mutations in genes encoding these chains cause myopathies known as Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM...

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Bibliografiska uppgifter
I publikationen:Biochim Biophys Acta
Huvudupphovsmän: Tagliavini, F., Pellegrini, C., Sardone, F., Squarzoni, S., Paulsson, M., Wagener, R., Gualandi, F., Trabanelli, C., Ferlini, A., Merlini, L., Santi, S., Maraldi, N.M., Faldini, C., Sabatelli, P.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier Pub. Co 2014
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4316388/
https://ncbi.nlm.nih.gov/pubmed/24907562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2014.05.033
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