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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. At present, none of the existing diagnostic techniques for evaluating collagen VI expression is quantitative, and the detect...

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Detalles Bibliográficos
Autores principales:	Kim, J., Jimenez-Mallebrera, C., Foley, A.R., Fernandez-Fuente, M., Brown, S.C., Torelli, S., Feng, L., Sewry, C.A., Muntoni, F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pergamon Press 2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657173/ https://www.ncbi.nlm.nih.gov/pubmed/22075033 http://dx.doi.org/10.1016/j.nmd.2011.08.006

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