P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1
Title:
P.387A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1
Author:
Beck, M. Aguti, S. Ala, P. Richard-Loendt, A. Chambers, D. Scaglioni, D. Ardicli, D. Feng, L. Mein, R. Zhou, H. Sewry, C. Sarkozy, A. Torelli, S. Muntoni, F. Phadke, R.