Authors: Hou, WS Bromme, D Zhao, YM Mehler, E Dushey, C Weinstein, H Miranda, CS Fraga, C Greig, F Carey, J Rimoin, DL Desnick, RJ Gelb, BD

Citation: Ws. Hou et al., Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis, J CLIN INV, 103(5), 1999, pp. 731-738