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Results: 1-7 |
Results: 7
MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998)
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF MANFREDI M RIZZUTO N SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION (VOL 102, PG 459, 1998), Human genetics, 102(5), 1998, pp. 602-602
MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF MANFREDI M RIZZUTO N SALVIATI A
Citation: M. Gomezlira et al., MOLECULAR-GENETIC CHARACTERIZATION OF 2 METACHROMATIC LEUKODYSTROPHY PATIENTS WHO CARRY THE T799G MUTATION AND SHOW DIFFERENT PHENOTYPES - DESCRIPTION OF A NOVEL NULL-TYPE MUTATION, Human genetics, 102(4), 1998, pp. 459-463
SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE
Authors: GOMEZLIRA M PERUSI C MOTTES M PIGNATTI PF RIZZUTO N GATTI R SALVIATI A
Citation: M. Gomezlira et al., SPLICING MUTATION CAUSES INFANTILE SANDHOFF-DISEASE, American journal of medical genetics, 75(3), 1998, pp. 330-333
A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE
Authors: PERUSI C GOMEZLIRA M MOTTES M PIGNATTI PF RIZZUTO N SALVIATI A
Citation: C. Perusi et al., A NOVEL MUTATION WHICH REPRESENTS THE 5TH NONPATHOGENIC POLYMORPHISM IN THE CODING SEQUENCE OF THE ARYLSULFATASE-A GENE, Molecular and cellular probes, 11(6), 1997, pp. 449-451
A 48-BP INSERTION BETWEEN EXON-13 AND EXON-14 OF THE HEXB GENE CAUSESINFANTILE-ONSET SANDHOFF DISEASE
Authors: GOMEZLIRA M PERUSI C BRUTTI N FARNETANI MA MARGOLLICCI MA RIZZUTO N PIGNATTI PF SALVIATI A
Citation: M. Gomezlira et al., A 48-BP INSERTION BETWEEN EXON-13 AND EXON-14 OF THE HEXB GENE CAUSESINFANTILE-ONSET SANDHOFF DISEASE, Human mutation, 6(3), 1995, pp. 260-262
A COMMON BETA-HEXOSAMINIDASE GENE MUTATION IN ADULT SANDHOFF DISEASE PATIENTS
Authors: GOMEZLIRA M SANGALLI A MOTTES M PERUSI C PIGNATTI PF RIZZUTO N SALVIATI A
Citation: M. Gomezlira et al., A COMMON BETA-HEXOSAMINIDASE GENE MUTATION IN ADULT SANDHOFF DISEASE PATIENTS, Human genetics, 96(4), 1995, pp. 417-422
IN-VITRO TRANSFECTION OF BETA-GAL GENE IN SATELLITE CELLS FROM ADULT-RAT MUSCLE AND THEIR INCORPORATION IN REGENERATING MYOFIBERS
Authors: MASSIMINO ML PERUSI C FIORINI E CARRARO U CANTINI M
Citation: Ml. Massimino et al., IN-VITRO TRANSFECTION OF BETA-GAL GENE IN SATELLITE CELLS FROM ADULT-RAT MUSCLE AND THEIR INCORPORATION IN REGENERATING MYOFIBERS, Journal of muscle research and cell motility, 15(2), 1994, pp. 183-183
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