A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)

Ann N Y Acad Sci. 1996 Jun 8:785:303-6. doi: 10.1111/j.1749-6632.1996.tb56291.x.

Authors

Y Muragaki¹, E C Mariman, S E van Beersum, M Perälä, J B van Mourik, M L Warman, B C Hamel, B R Olsen

Affiliation

¹ Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.

PMID: 8702162
DOI: 10.1111/j.1749-6632.1996.tb56291.x

No abstract available

MeSH terms

Alternative Splicing
Base Sequence
Collagen / chemistry
Collagen / genetics*
Exons
Heterozygote
Humans
Introns
Macromolecular Substances
Molecular Sequence Data
Osteochondrodysplasias / genetics*
Polymerase Chain Reaction
Protein Folding
Sequence Deletion*

Substances

Macromolecular Substances
Collagen