Concepedia

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

P. P. Madsen, Maria Kibæk, Xavier Roca, Ravi Sachidanandam, Adrian R. Krainer, Ernst Christensen, Robert D. Steiner, K. Michael Gibson, Thomas J. Corydon, Inga Knudsen,

Human Genetics · 2005 · 37 citations · 59 references

DOI

Concepts

References

59

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

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Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

Maria Grazia Spillantini, Jill R. Murrell, Michel Goedert et al. · Proceedings of the National Academy of Sciences · 1998 · 1.5K citations

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Are snRNPs involved in splicing?

Michael R. Lerner, John A. Boyle, Stephen M. Mount et al. · Nature · 1980 · 1.2K citations

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Prediction of human mRNA donor and acceptor sites from the DNA sequence

Søren Brunak, Jacob Engelbrecht, Steen Knudsen · Journal of Molecular Biology · 1991 · 806 citations

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A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

Yuan Zhuang, Alan M. Weiner · Cell · 1986 · 761 citations

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