The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study: Frontiers in Genetics

M. Neri, R. Rossi, C. Trabanelli, A. Mauro, R. Selvatici, M.S. Falzarano, N. Spedicato, A. Margutti, P. Rimessi, F. Fortunato, M. Fabris, F. Gualandi, G. Comi, S. Tedeschi, M. Seia, C. Fiorillo, M. Traverso, C. Bruno, E. Giardina, M.R. PiemonteseG. Merla, M. Cau, M. Marica, C. Scuderi, E. Borgione, A. Tessa, G. Astrea, F.M. Santorelli, L. Merlini, M. Mora, P. Bernasconi, S. Gibertini, V. Sansone, T. Mongini, A. Berardinelli, A. Pini, R. Liguori, M. Filosto, S. Messina, G. Vita, A. Toscano, M. Pane, S. Servidei, E. Pegoraro, L. Bello, L. Travaglini, E. Bertini, A. D'Amico, M. Ergoli, L. Politano, A. Torella, V. Nigro, E. Mercuri, A. Ferlini

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)131
JournalFront. Genet.
Volume11
DOIs
Publication statusPublished - 2020

Keywords

  • dystrophin
  • exon skipping therapy
  • muscular dystrophy
  • nationwide study
  • read-through therapy
  • genomic DNA
  • Article
  • cohort analysis
  • dystrophinopathy
  • exon skipping
  • frameshift mutation
  • gene deletion
  • gene duplication
  • gene mutation
  • genetic trait
  • genotype
  • high throughput sequencing
  • human
  • Italy
  • major clinical study
  • missense mutation
  • nonsense mutation
  • phenotype
  • stop codon

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