A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Nat Genet. 1996 Jan;12(1):103-5. doi: 10.1038/ng0196-103.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Cartilage, Articular / physiology*
  • Chromosomes, Human, Pair 1
  • Collagen / genetics*
  • DNA Primers / chemistry
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Molecular Sequence Data
  • Osteochondrodysplasias / genetics*
  • RNA Splicing

Substances

  • DNA Primers
  • Collagen

Associated data

  • GENBANK/M95610