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TÍTULO: Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
AUTORES: 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;
PUBLICAÇÃO: 1999, FONTE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 103, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef