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AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
10.3390/genes10050368
000470964100047
31091803
Barny
I.
author
Perrault
I.
author
Michel
C.
author
Goudin
N.
author
Defoort-Dhellemmes
S.
author
Ghazi
I.
author
Kaplan
J.
author
Rozet
J.M.
author
Gerard
X.
author
article
2019-05-14
Genes
2073-4425
2073-4425
journal
10
5
Antigens, Neoplasm/genetics
Antigens, Neoplasm/metabolism
Cell Cycle Proteins/genetics
Cell Cycle Proteins/metabolism
Codon, Nonsense
Cytoskeletal Proteins/genetics
Cytoskeletal Proteins/metabolism
Exons/genetics
Eye Abnormalities/genetics
Eye Diseases, Hereditary/genetics
Humans
Male
Neoplasm Proteins/genetics
Oligonucleotides, Antisense/genetics
RNA Splicing
Retina/metabolism
Retinal Dystrophies/genetics
Retinal Dystrophies/physiopathology
AON-mediated exon skipping
CEP290
Cilia elongation
Flanders founder c.4723A >
Leber congenital amaurosis and allied retinal ciliopathies
T nonsense mutation
spontaneous nonsense correction
eng
60_published
true
peer-reviewed
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
https://serval.unil.ch/notice/serval:BIB_0B5866B8F244
https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446
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