A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2).
Muragaki
Y
Y
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
Mariman
E C
EC
van Beersum
S E
SE
Perälä
M
M
van Mourik
J B
JB
Warman
M L
ML
Hamel
B C
BC
Olsen
B R
BR
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
D046911:Macromolecular Substances; D003094:Collagen