Concepedia

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

Kamiab Tavassoli, Antonin Eigel, Hartmut Pöllmann, Jiirgen Horst

Human Genetics · 1997 · 25 citations · 13 references

DOI

Concepts

References

13

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

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.3K citations

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Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Ulf Gyllensten · Proceedings of the National Academy of Sciences · 1988 · 1.6K citations · Full text

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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

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