Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

J Med Genet. 2004 Jan;41(1):52-9. doi: 10.1136/jmg.2003.011429.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence / genetics
  • Cartilage Oligomeric Matrix Protein
  • Child
  • Child, Preschool
  • DNA Mutational Analysis / methods
  • Exons / genetics
  • Extracellular Matrix Proteins / chemistry
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Glycoproteins / genetics
  • Haplotypes / genetics
  • Humans
  • Male
  • Matrilin Proteins
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Peptides / chemistry
  • Peptides / genetics
  • Protein Structure, Tertiary / genetics

Substances

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