LYSOSOMAL STORAGE DISEASES

[11] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J]. NATURE, 1988, 333 (6168) : 85 - 86

[12] ASHTON LJ, 1992, AM J HUM GENET, V50, P787

[13] GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA) [J]. GENOMICS, 1994, 20 (02) : 329 - 331

[14] BACH G, 1993, AM J HUM GENET, V53, P330

[15] MOLECULAR-BASIS OF AN ADULT FORM OF BETA-HEXOSAMINIDASE-B DEFICIENCY WITH MOTOR-NEURON DISEASE [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 181 (01) : 108 - 115

[16] BARANSKI TJ, 1991, J BIOL CHEM, V266, P23365

[17] GENERATION OF A LYSOSOMAL-ENZYME TARGETING SIGNAL IN THE SECRETORY PROTEIN PEPSINOGEN [J]. CELL, 1990, 63 (02) : 281 - 291

[18] BARANSKI TJ, 1992, J BIOL CHEM, V267, P22342

[19] BARTH ML, 1993, HUM GENET, V91, P73

[20] MISSENSE MUTATIONS IN THE ARYLSULFATASE-A GENES OF METACHROMATIC LEUKODYSTROPHY PATIENTS [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2117 - 2121

[11] IDENTIFICATION OF AN ALTERED SPLICE SITE IN ASHKENAZI TAY-SACHS DISEASE [J]. NATURE, 1988, 333 (6168) : 85 - 86

[12] ASHTON LJ, 1992, AM J HUM GENET, V50, P787

[13] GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA) [J]. GENOMICS, 1994, 20 (02) : 329 - 331

[14] BACH G, 1993, AM J HUM GENET, V53, P330

[15] MOLECULAR-BASIS OF AN ADULT FORM OF BETA-HEXOSAMINIDASE-B DEFICIENCY WITH MOTOR-NEURON DISEASE [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1991, 181 (01) : 108 - 115

[16] BARANSKI TJ, 1991, J BIOL CHEM, V266, P23365

[17] GENERATION OF A LYSOSOMAL-ENZYME TARGETING SIGNAL IN THE SECRETORY PROTEIN PEPSINOGEN [J]. CELL, 1990, 63 (02) : 281 - 291

[18] BARANSKI TJ, 1992, J BIOL CHEM, V267, P22342

[19] BARTH ML, 1993, HUM GENET, V91, P73

[20] MISSENSE MUTATIONS IN THE ARYLSULFATASE-A GENES OF METACHROMATIC LEUKODYSTROPHY PATIENTS [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (12) : 2117 - 2121