Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

Hum Mutat. 1998:Suppl 1:S10-7. doi: 10.1002/humu.1380110105.
No abstract available

Publication types

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

MeSH terms

  • Achondroplasia / genetics*
  • Achondroplasia / pathology
  • Amino Acid Sequence
  • Base Sequence
  • Cartilage Oligomeric Matrix Protein
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA Primers
  • Extracellular Matrix Proteins / genetics*
  • Family Health
  • Female
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Matrilin Proteins
  • Molecular Sequence Data
  • Mutation
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Sequence Deletion

Substances

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