Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia

Am J Med Genet A. 2005 Jul 30;136(3):285-6. doi: 10.1002/ajmg.a.30832.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Genotype
  • Humans
  • Male
  • Matrilin Proteins
  • Mutation*
  • Mutation, Missense
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Radiography
  • von Willebrand Factor / genetics*

Substances

  • Extracellular Matrix Proteins
  • Matrilin Proteins
  • von Willebrand Factor