Concepedia

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers‐Danlos syndrome type VII.

Dominique Weil, Marina D’Alessio, Francesco Ramirez, Wouter de Wet, William G. Cole, Danny Chan, John F. Bateman

The EMBO Journal · 1989 · 119 citations · 30 references

DOIFull text

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Concepts

References

30

DNA sequencing with chain-terminating inhibitors

Frederick Sanger, S. Nicklen, Alan Coulson · Proceedings of the National Academy of Sciences · 1977 · 69.3K citations · Full text

, , +10

Molecular Cloning. A Laboratory Manual

EJ Wood · Biochemical Education · 1983 · 30.6K citations

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Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

, , +17

A catalogue of splice junction sequences

Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text

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SV40-transformed simian cells support the replication of early SV40 mutants

Yakov Gluzman · Cell · 1981 · 2.5K citations

, , +6