Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs' effects on protein family evolution giving rise to gene duplicates or losses. "Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases.
D'Apice, M.R., Novelli, A., di Masi, A., Biancolella, M., Antoccia, A., Gullotta, F., et al. (2015). Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?. BMC MEDICAL GENETICS, 16(1), 1 [10.1186/s12881-015-0164-3].
Tipologia: | Articolo su rivista | |
Citazione: | D'Apice, M.R., Novelli, A., di Masi, A., Biancolella, M., Antoccia, A., Gullotta, F., et al. (2015). Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?. BMC MEDICAL GENETICS, 16(1), 1 [10.1186/s12881-015-0164-3]. | |
IF: | Con Impact Factor ISI | |
Lingua: | English | |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica | |
Revisione (peer review): | Esperti anonimi | |
Tipo: | Articolo | |
Rilevanza: | Rilevanza internazionale | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1186/s12881-015-0164-3 | |
Stato di pubblicazione: | Pubblicato | |
Data di pubblicazione: | 2015 | |
Titolo: | Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? | |
Autori: | ||
Autori: | D'Apice, MR; Novelli, A; di Masi, A; Biancolella, M; Antoccia, A; Gullotta, F; Licata, N; Minella, D; Testa, B; Nardone, A; Palmieri, G; Calabrese, E; Biancone, L; Tanzarella, C; Frontali, M; Sangiuolo, FC; Novelli, G; Pallone, F | |
Appare nelle tipologie: | 01 - Articolo su rivista |