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TITLE: Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
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;
PUBLISHED: 1999, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 103, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef