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

M Gomez-Lira

Showing results (1-10 of 28) with videos related to

Pageof 3
Sort By:
The Journal of Biological Chemistry|May 20, 1994
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of boneL Cohen-Solal, L Zylberberg, A Sangalli, et al.
Human Mutation|January 8, 2000
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. OnlineM Mottes, M Gomez Lira, F Zolezzi, et al.
International Journal of Immunogenetics|November 16, 2007
Two new highly polymorphic markers in the 3' UTR region of the PLA2G7 geneM Gomez Lira, L Provezza, C Terranova, et al.
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 Neuroimmunology|November 7, 2000
Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophyM Gomez-Lira, M G Marzari, G Uziel, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|July 18, 2002
CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemiaM Gomez Lira, C Patuzzo, C Castellani, 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.
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.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
The Journal of Biological Chemistry|May 20, 1994
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of boneL Cohen-Solal, L Zylberberg, A Sangalli, et al.
Human Mutation|January 8, 2000
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. OnlineM Mottes, M Gomez Lira, F Zolezzi, et al.
International Journal of Immunogenetics|November 16, 2007
Two new highly polymorphic markers in the 3' UTR region of the PLA2G7 geneM Gomez Lira, L Provezza, C Terranova, et al.
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 Neuroimmunology|November 7, 2000
Myelin oligodendrocyte glycoprotein (MOG) polymorphisms and adrenoleukodystrophyM Gomez-Lira, M G Marzari, G Uziel, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|July 18, 2002
CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemiaM Gomez Lira, C Patuzzo, C Castellani, 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.
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.
Pageof 3