A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, 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
Olsen
B R
BR
Hamel
B C
BC
D001483:Base Sequence; D002358:Cartilage, Articular / Q000502:physiology*; D002878:Chromosomes, Human, Pair 1; D003094:Collagen / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D012326:RNA Splicing
D017931:DNA Primers; D003094:Collagen