A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
Xia
Xinyi
X
Cui
Yingxia
Y
Huang
Yufeng
Y
Pan
Lianjun
L
Wu
Yongming
Y
Zhang
Pingping
P
Jin
Baofang
B
D000293:Adolescent; D000328:Adult; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005270:Femur Head / Q000002:abnormalities*; D005272:Femur Neck / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C499177:COL2A1 protein, human; D024043:Collagen Type II