Detalhe da pesquisa
1.
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Hum Mol Genet
; 27(15): 2689-2702, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771326
2.
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
Adv Exp Med Biol
; 1185: 189-195, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884610
3.
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
Genes (Basel)
; 10(5)2019 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31091803