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COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
Authors:Cassandre Labelle-Dumais  Vera Schuitema  Genki Hayashi  Kendall Hoff  Wenhui Gong  Dang Q Dao  Erik M Ullian  Peter Oishi  Marta Margeta  Douglas B Gould
Institution:1. Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA;2. Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA;3. Department of Pathology, University of California, San Francisco, San Francisco, CA 94143, USA;4. Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA;5. Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA
Abstract:
Keywords:Corresponding author  Collagen IV  COL4A1  COL4A2  Myopathy  Neuromuscular disease  myelination  4-phenylbutyrate  Schwann cells  Basement Membrane  ECM
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