AAAAAA

   
Results: 1-8 |
Results: 8
NEW MUTATION (S298P) IN A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE IA
Authors: STROPPIANO M MAZZOTTI R REGIS S GATTI R
Citation: M. Stroppiano et al., NEW MUTATION (S298P) IN A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE IA, Human mutation, 1998, pp. 329-329
A 9-BP DELETION (2320DEL9) ON THE BACKGROUND OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN A METACHROMATIC LEUKODYSTROPHY PATIENT AND IN A PATIENT WITH NONPROGRESSIVE NEUROLOGICAL SYMPTOMS
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F CAROLI F GATTI R
Citation: S. Regis et al., A 9-BP DELETION (2320DEL9) ON THE BACKGROUND OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN A METACHROMATIC LEUKODYSTROPHY PATIENT AND IN A PATIENT WITH NONPROGRESSIVE NEUROLOGICAL SYMPTOMS, Human genetics, 102(1), 1998, pp. 50-53
A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME
Authors: BONUCCELLI G REGIS S FILOCAMO M CORSOLINI F CAROLI F GATTI R
Citation: G. Bonuccelli et al., A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME, Clinical genetics, 53(6), 1998, pp. 474-477
MOLECULAR EPIDEMIOLOGY OF GLYCOGEN-STORAG E-DISEASE TYPE 1A IN ITALIAN CAUSISTICS - APPLICATION TO NONINVASIVE DIAGNOSIS AND PREVENTION
Authors: STROPPIANO M REGIS S GANDULLIA P DIROCCO M GATTI R
Citation: M. Stroppiano et al., MOLECULAR EPIDEMIOLOGY OF GLYCOGEN-STORAG E-DISEASE TYPE 1A IN ITALIAN CAUSISTICS - APPLICATION TO NONINVASIVE DIAGNOSIS AND PREVENTION, Rivista italiana di pediatria, 23(5), 1997, pp. 940-943
A T-GREATER-THAN-C TRANSITION CAUSING A LEU-GREATER-THAN-PRO SUBSTITUTION IN A CONSERVED REGION OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F GATTI R
Citation: S. Regis et al., A T-GREATER-THAN-C TRANSITION CAUSING A LEU-GREATER-THAN-PRO SUBSTITUTION IN A CONSERVED REGION OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT, Clinical genetics, 52(1), 1997, pp. 65-67
MOLECULAR ANALYSIS OF THE ARYLSULFATASE-A GENE IN LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENTS AND HEALTHY-SUBJECTS FROM ITALY
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F GATTI R
Citation: S. Regis et al., MOLECULAR ANALYSIS OF THE ARYLSULFATASE-A GENE IN LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENTS AND HEALTHY-SUBJECTS FROM ITALY, Journal of Medical Genetics, 33(3), 1996, pp. 251-252
AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT
Authors: REGIS S CARROZZO R FILOCAMO M SERRA G MASTROPAOLO C GATTI R
Citation: S. Regis et al., AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT, Human genetics, 96(2), 1995, pp. 233-235
IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
Authors: BIONE S MAESTRINI E RIVELLA S MANCINI M REGIS S ROMEO G TONIOLO D
Citation: S. Bione et al., IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY, Nature genetics, 8(4), 1994, pp. 323-327
Risultati: 1-8 |