Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9

This publication has 49 references indexed in Scilit:

• New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
  Human Molecular Genetics, 2003
• A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
  Genes & Development, 2002
• Alternatively Spliced TCR mRNA Induced by Disruption of Reading Frame
  Science, 2002
• Determination of the RNA Binding Specificity of the Heterogeneous Nuclear Ribonucleoprotein (hnRNP) H/H′/F/2H9 Family
  Journal of Biological Chemistry, 2001
• A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition
  Nature Biotechnology, 2001
• Cystic Fibrosis Mutations Lead to Carboxyl-terminal Fragments That Highlight an Early Biogenesis Step of the Cystic Fibrosis Transmembrane Conductance Regulator
  Published by Elsevier ,2000
• Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors
  American Journal of Human Genetics, 1998
• A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro
  Journal of Biological Chemistry, 1995
• Mutation of an RSV intronic element abolishes both U11/U12 snRNP binding and negative regulation of splicing.
  Genes & Development, 1993
• Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels
  Nature Genetics, 1993