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Listening to silence and understanding nonsense: exonic mutations that affect splicing

Nature Reviews Genetics · 2002 · Vol. 3(4) · pp. 285–298
Luca CartegniShern L. ChewAdrian R. Krainer
RNA Research and SplicingRNA and protein synthesis mechanismsRNA modifications and cancerRNA splicingBiologyExonGeneticsGeneMissense mutationNonsense mutationExonic splicing enhancerPoint mutationAlternative splicing

MeSH terms

Enhancer Elements, GeneticExonsHumansNuclear ProteinsPhenotypeRNA SplicingRNA, MessengerOpen Reading FramesPoint MutationCodon, NonsenseMutation, Missense
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2,197
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References
The essence of SNPs
Gene · 1999 · 1,366 citations
hnRNP complexes: composition, structure, and function
Current Opinion in Cell Biology · 1999 · 804 citations
Alternative splicing: increasing diversity in the proteomic world
Trends in Genetics · 2001 · 1,234 citations
Spliceosomal UsnRNP biogenesis, structure and function
Current Opinion in Cell Biology · 2001 · 683 citations
Alternative pre-mRNA splicing: the logic of combinatorial control
Trends in Biochemical Sciences · 2000 · 896 citations
The Sequence of the Human Genome
Science · 2001 · 13,619 citations
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