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Results: 1-13 |
Results: 13
A CHRONIC GM(2) GANGLIOSIDOSIS VARIANT WITH A HEXA SPLICING DEFECT - QUANTITATION OF HEXA MESSENGER-RNAS IN NORMAL AND MUTANT FIBROBLASTS
Authors: FERNANDES MJG HECHTMAN P BOULAY B KAPLAN F
Citation: Mjg. Fernandes et al., A CHRONIC GM(2) GANGLIOSIDOSIS VARIANT WITH A HEXA SPLICING DEFECT - QUANTITATION OF HEXA MESSENGER-RNAS IN NORMAL AND MUTANT FIBROBLASTS, European journal of human genetics, 5(3), 1997, pp. 129-136
FORMATION OF A TERNARY COMPLEX BETWEEN GM(2) ACTIVATOR PROTEIN, GM(2)GANGLIOSIDE AND HEXOSAMINIDASE-A
Authors: YADAO F HECHTMAN P KAPLAN F
Citation: F. Yadao et al., FORMATION OF A TERNARY COMPLEX BETWEEN GM(2) ACTIVATOR PROTEIN, GM(2)GANGLIOSIDE AND HEXOSAMINIDASE-A, Biochimica et biophysica acta. Protein structure and molecular enzymology, 1340(1), 1997, pp. 45-52
IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A
Authors: FERNANDES MJG YEW S LECLERC D HENRISSAT B VORGIAS CE GRAVEL RA HECHTMAN P KAPLAN F
Citation: Mjg. Fernandes et al., IDENTIFICATION OF CANDIDATE ACTIVE-SITE RESIDUES IN LYSOSOMAL BETA-HEXOSAMINIDASE-A, The Journal of biological chemistry, 272(2), 1997, pp. 814-820
SELECTIVE ASSOCIATION OF OVEREXPRESSED SECRETED LYSOSOMAL-ENZYME HYDROLASES WITH CALNEXIN
Authors: WILSON D HECHTMAN P KAPLAN F THOMAS DY BERGERON JJM
Citation: D. Wilson et al., SELECTIVE ASSOCIATION OF OVEREXPRESSED SECRETED LYSOSOMAL-ENZYME HYDROLASES WITH CALNEXIN, Molecular biology of the cell, 7, 1996, pp. 789-789
EXPRESSION AND MOLECULAR ANALYSIS OF MUTATIONS IN PROLIDASE DEFICIENCY
Authors: LEDOUX P SCRIVER CR HECHTMAN P
Citation: P. Ledoux et al., EXPRESSION AND MOLECULAR ANALYSIS OF MUTATIONS IN PROLIDASE DEFICIENCY, American journal of human genetics, 59(5), 1996, pp. 1035-1039
THE VAL(192)LEU MUTATION IN THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A IS NOT ASSOCIATED WITH THE B1-VARIANT FORM OF TAY-SACHS-DISEASE
Authors: HOU YM VAVOUGIOS G HINEK A WU KK HECHTMAN P KAPLAN F MAHURAN DJ
Citation: Ym. Hou et al., THE VAL(192)LEU MUTATION IN THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A IS NOT ASSOCIATED WITH THE B1-VARIANT FORM OF TAY-SACHS-DISEASE, American journal of human genetics, 59(1), 1996, pp. 52-58
EXPRESSION OF PROLIDASE MUTATIONS IN HETEROLOGOUS CELLS
Authors: LEDOUX P SCRIVER CR HECHTMAN P
Citation: P. Ledoux et al., EXPRESSION OF PROLIDASE MUTATIONS IN HETEROLOGOUS CELLS, American journal of human genetics, 57(4), 1995, pp. 1037-1037
QUANTITATION OF HEXA MESSENGER-RNA IN FIBROBLASTS OF TAY-SACHS DISEASES PATIENTS AND IN A LATE-ONSET GM2 GANGLIOSIDOSIS PATIENT WITH A NOVEL MUTATION
Authors: FERNANDES M BOULAY B HECHTMAN P KAPLAN F
Citation: M. Fernandes et al., QUANTITATION OF HEXA MESSENGER-RNA IN FIBROBLASTS OF TAY-SACHS DISEASES PATIENTS AND IN A LATE-ONSET GM2 GANGLIOSIDOSIS PATIENT WITH A NOVEL MUTATION, American journal of human genetics, 57(4), 1995, pp. 1954-1954
4 NOVEL PEPD ALLELES CAUSING PROLIDASE DEFICIENCY
Authors: LEDOUX P SCRIVER C HECHTMAN P
Citation: P. Ledoux et al., 4 NOVEL PEPD ALLELES CAUSING PROLIDASE DEFICIENCY, American journal of human genetics, 54(6), 1994, pp. 1014-1021
TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES
Authors: HECHTMAN P KAPLAN F
Citation: P. Hechtman et F. Kaplan, TAY-SACHS-DISEASE SCREENING AND DIAGNOSIS - EVOLVING TECHNOLOGIES, DNA and cell biology, 12(8), 1993, pp. 651-665
METACHROMATIC LEUKODYSTROPHY - MULTIPLE NONFUNCTIONAL AND PSEUDODEFICIENCY ALLELES IN A PEDIGREE - PROBLEMS WITH DIAGNOSIS AND COUNSELING
Authors: FRANCIS GS BONNI A SHEN N HECHTMAN P YAMUT B CARPENTER S KARPATI G CHANG PL
Citation: Gs. Francis et al., METACHROMATIC LEUKODYSTROPHY - MULTIPLE NONFUNCTIONAL AND PSEUDODEFICIENCY ALLELES IN A PEDIGREE - PROBLEMS WITH DIAGNOSIS AND COUNSELING, Annals of neurology, 34(2), 1993, pp. 212-218
PROLIDASE DEFICIENCY - A MULTISYSTEMIC HEREDITARY DISORDER
Authors: BISSONNETTE R FRIEDMANN D GIROUX JM DOLENGA M HECHTMAN P DERKALOUSTIAN VM DUBUC R
Citation: R. Bissonnette et al., PROLIDASE DEFICIENCY - A MULTISYSTEMIC HEREDITARY DISORDER, Journal of the American Academy of Dermatology, 29(5), 1993, pp. 818-821
IDENTIFICATION OF 3 NOVEL ALLELES CAUSING PROLIDASE DEFICIENCY
Authors: LEDOUX P SCRIVER CR HECHTMAN P
Citation: P. Ledoux et al., IDENTIFICATION OF 3 NOVEL ALLELES CAUSING PROLIDASE DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 919-919
Risultati: 1-13 |