Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
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H. Weinstein | B. Gelb | D. Rimoin | J. Carey | R. Desnick | E. Mehler | Y. Zhao | D. Brömme | W. Hou | C. Fraga | C. Miranda | C. Dushey | F. Greig | Harel Weinstein | Yingming Zhao | Craig Dushey | Claudia I. Fraga | Fenella Greig | Wu-Shiun Hou