A 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
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Date
2019Author
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.