Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia

Am J Med Genet A. 2005 Jan 1;132A(1):108-9. doi: 10.1002/ajmg.a.30348.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achondroplasia / genetics*
  • Achondroplasia / pathology
  • Amino Acid Sequence
  • Base Sequence
  • Cartilage Oligomeric Matrix Protein
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Exons / genetics*
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Glycoproteins / genetics*
  • Humans
  • Male
  • Matrilin Proteins
  • Middle Aged
  • Mutation*
  • Mutation, Missense
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Sequence Deletion
  • Sequence Homology, Nucleic Acid

Substances

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