Osteogenesis imperfecta. a model for genetic causes of osteoporosis and perhaps several other common diseases of connective tissue

This publication has 13 references indexed in Scilit:

• Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
  Proceedings of the National Academy of Sciences, 1986
• The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
  Journal of Biological Chemistry, 1986
• Altered Helical Structure of a Homotrimer of α1(I)Chains Synthesized by Fibroblasts from a Variant of Osteogenesis Imperfecta
  Collagen and Related Research, 1985
• Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
  Journal of Biological Chemistry, 1984
• Heritable Diseases of Collagen
  New England Journal of Medicine, 1984
• The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.
  Journal of Medical Genetics, 1984
• Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.
  Proceedings of the National Academy of Sciences, 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
• Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.
  Proceedings of the National Academy of Sciences, 1981
• BIOCHEMICAL HETEROGENEITY OF OSTEOGENESIS IMPERFECTA: NEW VARIANT
  The Lancet, 1979