title: A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).
authors.affiliation: Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Muragaki
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: S E
authors.initials: SE
authors.lastname: van Beersum
authors.forename: M
authors.initials: M
authors.lastname: Perälä
authors.forename: J B
authors.initials: JB
authors.lastname: van Mourik
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
mesh_terms: D017398:Alternative Splicing; D001483:Base Sequence; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007438:Introns; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017510:Protein Folding; D017384:Sequence Deletion
chemical_list: D046911:Macromolecular Substances; D003094:Collagen