Exon Skipping Mutations in Neurofibromatosis
Author:
Publisher
Humana Press
Link
http://link.springer.com/content/pdf/10.1007/978-1-61779-767-5_5.pdf
Reference54 articles.
1. Baralle D, Lucassen A, Buratti E (2009) Missed threads. The impact of pre-mRNA splicing defects on clinical practice. EMBO Rep 10:810–816
2. Raponi M, Baralle D (2010) Alternative splicing: good and bad effects of translationally silent substitutions. FEBS J 277:836–840
3. Buratti E, Baralle M, Baralle FE (2006) Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 34:3494–3510
4. Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN (2007) Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28:150–158
5. Vorechovsky I (2006) Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 34:4630–4641
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