Tropak, M, Stirling, JL, Arpaia, E, Troxel, C, Bapat, B, Dumbrille-Ross, A, Maler, T, Neote, K, Lamhonwah, AM, Pitts, JS
Myerowitz, R, Costigan, FC
Navon, R, Proia, RL
Mahuran, DJ
Leroy, J, O'Brien, JS, Veath, ML, Okada, S
Ohno, K, Suzuki, K, Muscillo, M, Hoffman, AJ, Nakano, T
Myerowitz, R
beta-N-acetylhexosaminidase activity of HEXA Y427Ifs*5 [lysosomal lumen]
Loss of function of HEXA Y427Ifs*5 [lysosomal lumen]
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