A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA.
Y
Y
Muragaki
E C
EC
Mariman
S E
SE
van Beersum
M
M
Perälä
J B
JB
van Mourik
M L
ML
Warman
B R
BR
Olsen
B C
BC
Hamel
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