AAAAAA

   
Results: 1-8 |
Results: 8
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
A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA
Authors: MOTTES M SANGALLI A VALLI M FORLINO A GOMEZLIRA M ANTONIAZZI F CONSTANTINOUDELTAS CD CETTA G PIGNATTI PF
Citation: M. Mottes et al., A BASE SUBSTITUTION AT IVS-19 3'-END SPLICE JUNCTION CAUSES EXON-20 SKIPPING IN PRO-ALPHA-2(I) COLLAGEN MESSENGER-RNA AND PRODUCES MILD OSTEOGENESIS-IMPERFECTA, Human genetics, 93(6), 1994, pp. 681-687
DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION
Authors: GOMEZLIRA M SANGALLI A PIGNATTI PF DIGILIO MC GIANNOTTI A CARNEVALE E MOTTES M
Citation: M. Gomezlira et al., DETERMINATION OF A NEW COLLAGEN TYPE-I ALPHA-2 GENE POINT MUTATION WHICH CAUSES A GLY640 CYS SUBSTITUTION IN OSTEOGENESIS IMPERFECTA AND PRENATAL-DIAGNOSIS BY DNA HYBRIDIZATION, Journal of Medical Genetics, 31(12), 1994, pp. 965-968
Risultati: 1-8 |