Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

C Perusi

Showing results (1-10 of 9) with videos related to

Pageof 1
Sort By:
Molecular and Cellular Probes|March 17, 1998
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A geneC Perusi, M Gomez-Lira, M Mottes, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Clinical Genetics|April 3, 1999
Mutations associated with very late-onset metachromatic leukodystrophyC Perusi, M G Lira, R F Duyff, et al.
Human Mutation|January 1, 1995
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff diseaseM Gomez-Lira, C Perusi, N Brutti, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Molecular and Cellular Probes|March 17, 1998
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A geneC Perusi, M Gomez-Lira, M Mottes, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Clinical Genetics|April 3, 1999
Mutations associated with very late-onset metachromatic leukodystrophyC Perusi, M G Lira, R F Duyff, et al.
Human Mutation|January 1, 1995
A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff diseaseM Gomez-Lira, C Perusi, N Brutti, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Pageof 1