Titre : | Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology |
Revue : | Human mutation |
Auteurs : | Goina E, Auteur ; Musco L ; Dardis A ; Buratti E |
Type de document : | Article |
Année de publication : | 07/2019 |
Langues: | Anglais |
Mots-clés: | RNA splicing mutations;antisense oligonucleotides;glycogenosis type 2;mRNA splicing;pompe disease; |
Pubmed / DOI : | Pubmed : 31301153 / DOI : 10.1002/humu.23867 |
N° Profil MNM : | 2019072 |