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Results: 1-25 | 26-35 |
Results: 26-35/35
LOCALIZATION OF MUTATIONS IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY TO THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE
Authors: DUPUIS L LEONDELRIO A GRAVEL RA
Citation: L. Dupuis et al., LOCALIZATION OF MUTATIONS IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY TO THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE, American journal of human genetics, 57(4), 1995, pp. 1018-1018
IMPACT OF PREMATURE STOP CODONS ON MESSENGER-RNA LEVELS IN INFANTILE SANDHOFF DISEASE
Authors: ZHANG ZX WAKAMATSU N MULES EH THOMAS GH GRAVEL RA
Citation: Zx. Zhang et al., IMPACT OF PREMATURE STOP CODONS ON MESSENGER-RNA LEVELS IN INFANTILE SANDHOFF DISEASE, Human molecular genetics, 3(1), 1994, pp. 139-145
CHARACTERIZATION OF THE MURINE BETA-HEXOSAMINIDASE (HEXB) GENE
Authors: TRIGGSRAINE BL BENOIT G SALO TJ TRASLER JM GRAVEL RA
Citation: Bl. Triggsraine et al., CHARACTERIZATION OF THE MURINE BETA-HEXOSAMINIDASE (HEXB) GENE, Biochimica et biophysica acta. Molecular basis of disease, 1227(1-2), 1994, pp. 79-86
STRUCTURAL ORGANIZATION, SEQUENCE, AND EXPRESSION OF THE MOUSE HEXA GENE ENCODING THE ALPHA-SUBUNIT OF HEXOSAMINIDASE-A
Authors: WAKAMATSU N BENOIT G LAMHONWAH AM ZHANG ZX TRASLER JM TRIGGSRAINE BL GRAVEL RA
Citation: N. Wakamatsu et al., STRUCTURAL ORGANIZATION, SEQUENCE, AND EXPRESSION OF THE MOUSE HEXA GENE ENCODING THE ALPHA-SUBUNIT OF HEXOSAMINIDASE-A, Genomics, 24(1), 1994, pp. 110-119
CORRECTION OF THE METABOLIC DEFECT IN PROPIONIC ACIDEMIA FIBROBLASTS BY MICROINJECTION OF A FULL-LENGTH CDNA OR RNA TRANSCRIPT ENCODING THEPROPIONYL-COA CARBOXYLASE BETA-SUBUNIT
Authors: LAMHONWAH AM LECLERC D LOYER M CLARIZIO R GRAVEL RA
Citation: Am. Lamhonwah et al., CORRECTION OF THE METABOLIC DEFECT IN PROPIONIC ACIDEMIA FIBROBLASTS BY MICROINJECTION OF A FULL-LENGTH CDNA OR RNA TRANSCRIPT ENCODING THEPROPIONYL-COA CARBOXYLASE BETA-SUBUNIT, Genomics, 19(3), 1994, pp. 500-505
SANDHOFF DISEASE IN ARGENTINA - HIGH-FREQUENCY OF A SPLICE-SITE MUTATION IN THE HEXB GENE AND CORRELATION BETWEEN ENZYME AND DNA-BASED TESTS FOR HETEROZYGOTE DETECTION
Authors: KLEIMAN FE DEKREMER RD DERAMIREZ AO GRAVEL RA ARGARANA CE
Citation: Fe. Kleiman et al., SANDHOFF DISEASE IN ARGENTINA - HIGH-FREQUENCY OF A SPLICE-SITE MUTATION IN THE HEXB GENE AND CORRELATION BETWEEN ENZYME AND DNA-BASED TESTS FOR HETEROZYGOTE DETECTION, Human genetics, 94(3), 1994, pp. 279-282
SEQUENCE REQUIREMENTS FOR THE BIOTINYLATION OF CARBOXYL-TERMINAL FRAGMENTS OF HUMAN PROPIONYL-COA CARBOXYLASE ALPHA-SUBUNIT EXPRESSED IN ESCHERICHIA-COLI
Authors: LEONDELRIO A GRAVEL RA
Citation: A. Leondelrio et Ra. Gravel, SEQUENCE REQUIREMENTS FOR THE BIOTINYLATION OF CARBOXYL-TERMINAL FRAGMENTS OF HUMAN PROPIONYL-COA CARBOXYLASE ALPHA-SUBUNIT EXPRESSED IN ESCHERICHIA-COLI, The Journal of biological chemistry, 269(37), 1994, pp. 22964-22968
MUTATIONS PARTICIPATING IN INTERALLELIC COMPLEMENTATION IN PROPIONIC ACIDEMIA
Authors: GRAVEL RA AKERMAN BR LAMHONWAH AM LOYER M LEONDELRIO A ITALIANO I
Citation: Ra. Gravel et al., MUTATIONS PARTICIPATING IN INTERALLELIC COMPLEMENTATION IN PROPIONIC ACIDEMIA, American journal of human genetics, 55(1), 1994, pp. 51-58
SSCP POLYMORPHISM IN EXON 8B OF THE HUMAN G-PROTEIN ALPHA-O2 SUBUNIT (GNA01) GENE
Authors: DREWS RT LAGACE G GRAVEL RA COLLU R
Citation: Rt. Drews et al., SSCP POLYMORPHISM IN EXON 8B OF THE HUMAN G-PROTEIN ALPHA-O2 SUBUNIT (GNA01) GENE, Human molecular genetics, 2(8), 1993, pp. 1333-1333
EFFECT OF AMINO-ACID CHAIN-LENGTH AND IN-VITRO-GENERATED MUTATIONS ONBIOTINYLATION OF CARBOXYL-TERMINAL FRAGMENTS OF HUMAN PROPIONYL-COA CARBOXYLASE EXPRESSED IN ESCHERICHIA-COLI
Authors: DELRIO AL GRAVEL RA
Citation: Al. Delrio et Ra. Gravel, EFFECT OF AMINO-ACID CHAIN-LENGTH AND IN-VITRO-GENERATED MUTATIONS ONBIOTINYLATION OF CARBOXYL-TERMINAL FRAGMENTS OF HUMAN PROPIONYL-COA CARBOXYLASE EXPRESSED IN ESCHERICHIA-COLI, American journal of human genetics, 53(3), 1993, pp. 154-154
Risultati: 1-25 | 26-35 |