Mutations in Type I Procollagen Genes That Cause Osteogenesis Imperfecta

This publication has 51 references indexed in Scilit:

• Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue
  American Journal of Medical Genetics, 1989
• A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
  Journal of Clinical Investigation, 1989
• OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES
  The Lancet, 1986
• The Structure of the Chicken α2 Collagen Genea
  Annals of the New York Academy of Sciences, 1985
• Heritable Diseases of Collagen
  New England Journal of Medicine, 1984
• Nucleotide sequences of complementary deoxyribonucleic acids for the pro.alpha.1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution
  Biochemistry, 1983
• Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta
  Nature, 1983
• Nonoperative Treatment of Osteogenesis Imperfecta
  Clinical Orthopaedics and Related Research, 1981
• Partial purification and characterization of a neutral protease which cleaves the N-terminal propeptides from procollagen
  Biochemistry, 1978
• Effect of an Additional Peptide Extension of the N‐Terminus of Collagen from Dermatosparactic Calves on the Cross‐Linking of the Collagen Fibres
  European Journal of Biochemistry, 1973