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A study of splicing mutations in disorders of sex development.
de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D. de Calais FL, et al. Among authors: raponi m. Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3. Sci Rep. 2017. PMID: 29176693 Free PMC article.
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.
Raponi M, Buratti E, Llorian M, Stuani C, Smith CW, Baralle D. Raponi M, et al. FEBS J. 2008 Dec;275(24):6101-8. doi: 10.1111/j.1742-4658.2008.06734.x. Epub 2008 Nov 1. FEBS J. 2008. PMID: 19016857 Free article.
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutation [Raponi M, Upadhyaya M & Baralle D (2006) Hum Mutat 27, 294-295]. In this paper, we investigate which characteris …
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutatio …
BRCA1 exon 11 a model of long exon splicing regulation.
Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D. Raponi M, et al. RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18. RNA Biol. 2014. PMID: 24658338 Free PMC article.
263 results