Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

Ann N Y Acad Sci. 1996 Jun 8:785:188-94. doi: 10.1111/j.1749-6632.1996.tb56258.x.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Cartilage / metabolism*
  • Cartilage / pathology
  • Cartilage / ultrastructure
  • Cartilage Oligomeric Matrix Protein
  • Extracellular Matrix Proteins / chemistry
  • Extracellular Matrix Proteins / genetics
  • Glycoproteins / chemistry
  • Glycoproteins / genetics*
  • Humans
  • Matrilin Proteins
  • Molecular Sequence Data
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Point Mutation*
  • Sequence Deletion*
  • Sequence Homology, Amino Acid

Substances

  • Cartilage Oligomeric Matrix Protein
  • Extracellular Matrix Proteins
  • Glycoproteins
  • Matrilin Proteins
  • TSP5 protein, human