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Molecular Diagnosis of Genetic Diseases pp 9–44Cite as

Current and Emerging Techniques for Diagnostic Mutation Detection

An Overview of Methods for Mutation Detection

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Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 92))

Abstract

This chapter provides a broad overview of the range of mutation detection techniques that are now available.

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Author information

Authors and Affiliations

  1. Cancer Research UK Mutation Detection Facility, St. James’s University Hospital, Leeds, UK

    Claire F. Taylor

  2. Regional DNA Laboratory and Cancer Research UK Mutation Detection Facility, St James’s University Hospital, Leeds, UK

    Graham R. Taylor

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  1. Claire F. Taylor
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  2. Graham R. Taylor
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Editors and Affiliations

  1. UK National Genetics Reference Laboratory, Manchester, UK

    Rob Elles PhD

  2. Liverpool Women’s Hospital, Liverpool, UK

    Roger Mountford BSc

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Taylor, C.F., Taylor, G.R. (2004). Current and Emerging Techniques for Diagnostic Mutation Detection. In: Elles, R., Mountford, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 92. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-432-8:9

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  • DOI: https://doi.org/10.1385/1-59259-432-8:9

  • Publisher Name: Humana Press, Totowa, NJ

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