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One or more keywords matched the following items that are connected to Chu, Mon-Li
Item TypeName
Concept Collagen Type VI
Academic Article Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Academic Article Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice.
Academic Article Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer.
Academic Article Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Academic Article Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
Academic Article Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human.
Academic Article Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
Academic Article New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Academic Article A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
Academic Article COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
Academic Article Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
Academic Article Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
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  • Collagen Type I