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

Internet

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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