Associated Papers
Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies.
White T et al.
Journal of the Royal Society, Interface, 2025
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
Kim J et al.
Neuromuscular Disorders : Nmd, 2012
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Jimenez-Mallebrera C et al.
Neuromuscular Disorders : Nmd, 2006
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK et al.
Journal of Medical Genetics, 2005
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