Translational readthrough of
Nonsense mutations
fabry disease
lysosomal disorders
translational readthrough
Journal
RNA biology
ISSN: 1555-8584
Titre abrégé: RNA Biol
Pays: United States
ID NLM: 101235328
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
pubmed:
16
10
2019
medline:
26
9
2020
entrez:
16
10
2019
Statut:
ppublish
Résumé
Nonsense mutations are relatively frequent in the rare X-linked lysosomal α-galactosidase A (α-Gal) deficiency (Fabry disease; FD), but have been poorly investigated. Here, we evaluated the responsiveness of a wide panel (n = 14) of
Identifiants
pubmed: 31613176
doi: 10.1080/15476286.2019.1676115
pmc: PMC6973320
doi:
Substances chimiques
Codon, Nonsense
0
alpha-Galactosidase
EC 3.2.1.22
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
254-263Références
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