Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type.
Nishimura
G
G
Nakashima
E
E
Mabuchi
A
A
Shimamoto
K
K
Shimamoto
T
T
Shimao
Y
Y
Nagai
T
T
Yamaguchi
T
T
Kosaki
R
R
Ohashi
H
H
Makita
Y
Y
Ikegawa
S
S
D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality; D011859:Radiography; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000401:mortality
C499177:COL2A1 protein, human; D024043:Collagen Type II