New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Samankaltaisia teoksia

• The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy
  Tekijä: Bönnemann, Carsten G.
  Julkaistu: (2011)
• Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy: ROLE OF THE C2a SPLICE VARIANT
  Tekijä: Zhang, Rui-Zhu, et al.
  Julkaistu: (2010)
• Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy
  Tekijä: Foley, A. Reghan, et al.
  Julkaistu: (2011)
• siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy
  Tekijä: Bolduc, Véronique, et al.
  Julkaistu: (2014)
• Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
  Tekijä: Bolduc, Véronique, et al.
  Julkaistu: (2020)