Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study(357 views) Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G
Keywords: Cyp7b1, Spastic Paraplegia, White Matter Abnormalities, Cytochrome P450, Cytochrome P450 7b1, Fluorodeoxyglucose F 18, Messenger Rna, Unclassified Drug, Adolescent, Article, Brain Metabolism, Carboxy Terminal Sequence, Case Report, Child, Clinical Assessment, Controlled Study, Disease Course, Exon, Female, Frameshift Mutation, Gene Mutation, Genetic Analysis, Hereditary Motor Sensory Neuropathy, Homozygosity, Human, Loss Of Function Mutation, Nonsense Mutation, Nuclear Magnetic Resonance Imaging, Phenotype, Positron Emission Tomography, Priority Journal, Recessive Gene, Rna Degradation, Stop Codon, Tendon Reflex, Vibration Sense, Adult, Cerebellum, Dna Mutational Analysis, Gene Frequency, Genetic Markers, Genetic Predisposition To Disease, Genetic Screening, Genotype, Middle Aged, Pedigree, Polymorphism, Positron-Emission Tomography, Steroid Hydroxylases,
Affiliations: *** IBB - CNR ***
Dipartimento di Scienze Neurologiche, Università Degli Studi di Napoli Federico II, Via Pansini 5, Naples 80131, Italy
Department of Biomorphological and Functional Sciences, Biostructure and Bioimaging Institute, Federico II University, Naples, Italy
Telethon Institute of Genetics and Medicine, Naples, Italy
Program in Neurogenetics, Department of Neurology and Semel Institute, University of California at Los Angeles, Los Angeles, CA, United States
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Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study