Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.
作者信息
Susic S, Ahier J, Cole W G
机构信息
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.