Detalhe da pesquisa
1.
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.
Nucleic Acids Res
; 47(14): 7618-7632, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127278
2.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Hum Mol Genet
; 27(14): 2466-2476, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701768
3.
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.
Haematologica
; 103(2): 344-350, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29170251
4.
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Hum Mutat
; 36(5): 504-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665175