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An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

  • Published:2012-02-23 Issue:11 Volume:21 Page:2389-2398
  • ISSN:0964-6906
  • Container-title:Human Molecular Genetics
  • language:en
  • Short-container-title:

Author:

Fernandez Alanis Eugenio,Pinotti Mirko,Dal Mas Andrea,Balestra Dario,Cavallari Nicola,Rogalska Malgorzata E.,Bernardi Francesco,Pagani Franco

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference48 articles.

1. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences;Hum. Genet.,1992

2. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences;Am. J. Hum. Genet.,1999

3. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Hum. Mol. Genet.,2000

4. Genomic variants in exons and introns: identifying the splicing spoilers;Nat. Rev. Genet.,2004

5. Listening to silence and understanding nonsense: exonic mutations that affect splicing;Nat. Rev. Genet.,2002
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