ABCC7 p.Ala566Thr
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 22362925
[PubMed]
Fernandez Alanis E et al: "An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects."
No.
Sentence
Comment
43
In the CFTR exon 12, we studied five donor-site substitutions and, as models for exonic mutations that affect splicing, two codon changes (A566T and Y577Y) located in the previously reported CERES element (7) (Supplementary Material, Table S1).
X
ABCC7 p.Ala566Thr 22362925:43:139
status: NEW52 On the other hand, all mutations in CFTR exon 12, either located at the donor sites (in position 21, +3 and +5) or in the exon (A566T and Y577Y), induced exon skipping (Fig. 1D).
X
ABCC7 p.Ala566Thr 22362925:52:128
status: NEW53 In is worth noting that the A566T and Y577Y exonic variants affect exonic splicing regulatory elements (7), which are important for correct exon definition.
X
ABCC7 p.Ala566Thr 22362925:53:28
status: NEWX
ABCC7 p.Ala566Thr 22362925:53:128
status: NEW127 Intriguingly, we observed complete splicing correction by ExSpeU1 cf11 of the two exonic A566T and Y577Y mutations (Fig. 6B, lanes 1-4).
X
ABCC7 p.Ala566Thr 22362925:127:89
status: NEW44 In the CFTR exon 12, we studied five donor-site substitutions and, as models for exonic mutations that affect splicing, two codon changes (A566T and Y577Y) located in the previously reported CERES element (7) (Supplementary Material, Table S1).
X
ABCC7 p.Ala566Thr 22362925:44:139
status: NEW54 In is worth noting that the A566T and Y577Y exonic variants affect exonic splicing regulatory elements (7), which are important for correct exon definition.
X
ABCC7 p.Ala566Thr 22362925:54:28
status: NEW128 Intriguingly, we observed complete splicing correction by ExSpeU1 cf11 of the two exonic A566T and Y577Y mutations (Fig. 6B, lanes 1-4).
X
ABCC7 p.Ala566Thr 22362925:128:89
status: NEW