LYSOSOMAL STORAGE DISEASES

[1] AINSWORTH PJ, 1991, AM J HUM GENET, V51, P802

[2] Akalin N., 1992, Human Mutation, V1, P40, DOI 10.1002/humu.1380010107

[3] AKLI S, 1990, J BIOL CHEM, V265, P7324

[4] 10 NOVEL MUTATIONS IN THE HEXA-GENE IN NON-JEWISH TAY-SACHS PATIENTS [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 61 - 67

[5] AKLI S, 1993, HUM GENET, V90, P614

[6] 7 NOVEL TAY-SACHS MUTATIONS DETECTED BY CHEMICAL MISMATCH CLEAVAGE OF PCR-AMPLIFIED CDNA FRAGMENTS [J]. GENOMICS, 1991, 11 (01) : 124 - 134

[7] ANDERSON RA, 1991, J BIOL CHEM, V266, P22479

[8] MUTATIONS AT THE LYSOSOMAL ACID CHOLESTERYL ESTER HYDROLASE GENE LOCUS IN WOLMAN-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (07) : 2718 - 2722

[9] ANDRIA G, 1981, SIALIDASES SIALIDOSE, P379

[10] ARLT G, 1994, J BIOL CHEM, V269, P9638

[1] AINSWORTH PJ, 1991, AM J HUM GENET, V51, P802

[2] Akalin N., 1992, Human Mutation, V1, P40, DOI 10.1002/humu.1380010107

[3] AKLI S, 1990, J BIOL CHEM, V265, P7324

[4] 10 NOVEL MUTATIONS IN THE HEXA-GENE IN NON-JEWISH TAY-SACHS PATIENTS [J]. HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 61 - 67

[5] AKLI S, 1993, HUM GENET, V90, P614

[6] 7 NOVEL TAY-SACHS MUTATIONS DETECTED BY CHEMICAL MISMATCH CLEAVAGE OF PCR-AMPLIFIED CDNA FRAGMENTS [J]. GENOMICS, 1991, 11 (01) : 124 - 134

[7] ANDERSON RA, 1991, J BIOL CHEM, V266, P22479

[8] MUTATIONS AT THE LYSOSOMAL ACID CHOLESTERYL ESTER HYDROLASE GENE LOCUS IN WOLMAN-DISEASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (07) : 2718 - 2722

[9] ANDRIA G, 1981, SIALIDASES SIALIDOSE, P379

[10] ARLT G, 1994, J BIOL CHEM, V269, P9638