The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
dystrophin
exon skipping therapy
muscular dystrophy
nationwide study
read-through therapy
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
13
09
2019
accepted:
03
02
2020
entrez:
21
3
2020
pubmed:
21
3
2020
medline:
21
3
2020
Statut:
epublish
Résumé
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (
Identifiants
pubmed: 32194622
doi: 10.3389/fgene.2020.00131
pmc: PMC7063120
doi:
Types de publication
Journal Article
Langues
eng
Pagination
131Informations de copyright
Copyright © 2020 Neri, Rossi, Trabanelli, Mauro, Selvatici, Falzarano, Spedicato, Margutti, Rimessi, Fortunato, Fabris, Gualandi, Comi, Tedeschi, Seia, Fiorillo, Traverso, Bruno, Giardina, Piemontese, Merla, Cau, Marica, Scuderi, Borgione, Tessa, Astrea, Santorelli, Merlini, Mora, Bernasconi, Gibertini, Sansone, Mongini, Berardinelli, Pini, Liguori, Filosto, Messina, Vita, Toscano, Vita, Pane, Servidei, Pegoraro, Bello, Travaglini, Bertini, D'Amico, Ergoli, Politano, Torella, Nigro, Mercuri and Ferlini.
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