Bethlem Myopathy and Engineered Collagen VI Triple Helical Deletions Prevent Intracellular Multimer Assembly and Protein Secretion
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference37 articles.
1. BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCE
2. Further investigations on benign myopathy with autosomal dominant inheritance
3. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
4. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
5. Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
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