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1.
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Nucleic Acids Res
; 46(15): 7938-7952, 2018 09 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29762696
2.
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
Nucleic Acids Res
; 45(1): 395-416, 2017 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27557711
3.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Hum Mutat
; 35(1): 86-95, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123825
4.
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.
PLoS One
; 9(6): e98841, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24892836
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