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Absence of an Intron Splicing Silencer in Porcine <i>Smn1</i> Intron 7 Confers Immunity to the Exon Skipping Mutation in Human <i>SMN2</i>.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098841
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- Article
Identification of Six Novel <i>PTH1R</i> Mutations in Families with a History of Primary Failure of Tooth Eruption.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074601
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- Article
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 1, p. 395, doi. 10.1093/nar/gkw731
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- Article
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 9, p. 4627, doi. 10.1093/nar/gkv275
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- Article
SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site.
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 220, doi. 10.1002/humu.21419
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- Article
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006039
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- Article