Authors:
Diaz, GA
Gelb, BD
Risch, N
Nygaard, TG
Frisch, A
Cohen, IJ
Miranda, CS
Amaral, O
Maire, I
Poenaru, L
Caillaud, C
Weizberg, M
Mistry, P
Desnick, RJ
Citation: Ga. Diaz et al., Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations, AM J HU GEN, 66(6), 2000, pp. 1821-1832
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