Pages that link to "Q57640053"

The following pages link to Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy (Q57640053):

Displaying 17 items.

• Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies (Q24647603) (← links)
• Collagen VI related muscle disorders (Q24673264) (← links)
• Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (Q30478574) (← links)
• New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype (Q33905203) (← links)
• Col6a1 null mice as a model to study skin phenotypes in patients with collagen VI related myopathies: expression of classical and novel collagen VI variants during wound healing (Q34089837) (← links)
• The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
• Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy (Q34236492) (← links)
• Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Q35046733) (← links)
• The floppy infant: contribution of genetic and metabolic disorders (Q35226294) (← links)
• Diagnostic immunohistochemistry in neuromuscular disorders (Q36012956) (← links)
• Flow cytometry analysis: a quantitative method for collagen VI deficiency screening (Q36852826) (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
• Intrinsic differences between authentic and cryptic 5' splice sites (Q40240461) (← links)
• Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. (Q42646168) (← links)
• Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations (Q47301610) (← links)
• Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. (Q53489453) (← links)
• Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy (Q57588393) (← links)