Journal article

Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

SR Lamande, KA Shields, AJ Kornberg, LK Shield, JF Bateman

Journal of Biological Chemistry | AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC | Published : 1999

DOI: 10.1074/jbc.274.31.21817

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Keywords

Kniest Dysplasia
Tumor Cells, Cultured
Biochemistry & Molecular Biology
Syndrome Type-Iv
Skin
Splice-Site
Sequence Deletion
Intima Collagen
Human-Skin
Transfection
Life Sciences & Biomedicine
Science & Technology
Introns
Rna Precursors
Collagen
Humans
Muscular Dystrophies
Amino Acid Sequence
Base Sequence
Cells, Cultured
Globular Domains
Osteosarcoma
Stickler Syndrome Arthroophthalmopathy
Fibroblasts
Protein Structure, Secondary
Exons
Col3a1 Gene
Restriction Mapping
Adult
Osteogenesis Imperfecta
Protein Engineering
Neuromuscular Diseases
Male
Vonwillebrand-Factor