Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.

By Nicolas Charlet-B., R. Savkur, G. Singh, A. Philips, Elizabeth A. Grice, T. Cooper. Molecules and Cells, 2002

625 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/bb34541f8c22f337a32c43db8978e40f18d3a898

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In Molecular Biology

1. N. Faustino
2. T. Cooper

Citations in the corpus

• Pre-mRNA splicing and human disease. (2003, background): “…aberrantly regulated splicing in DM1 tissues and/or mouse models: cardiac troponin T (cTNT), insulin receptor (IR), muscle-specific chloride channel (ClC-1), tau, and myotubularin-related 1 (Philips et al. 1998; Savkur et al. 2001; Seznec et al. 2001; BujBello et al. 2002; Charlet et al. 2002b).”