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.
Y Muragaki  1 ,  E C Mariman ,  S E van Beersum ,  M Perälä ,  J B van Mourik ,  M L Warman ,  B R Olsen ,  B C Hamel
Affiliations
  • 1. Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
PMID: 8528240 DOI: 10.1038/ng0196-103