Osteogenesis imperfecta: translation of mutation to phenotype

J Med Genet. 1991 Jul;28(7):433-42. doi: 10.1136/jmg.28.7.433.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Chromosome Deletion
  • Collagen / biosynthesis
  • DNA Mutational Analysis
  • Exons
  • Frameshift Mutation
  • Gene Expression Regulation
  • Genes
  • Genes, Lethal
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Osteogenesis Imperfecta / classification
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / metabolism
  • Osteogenesis Imperfecta / pathology
  • Phenotype
  • Procollagen / genetics
  • Protein Conformation

Substances

  • Procollagen
  • Collagen