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Laboratory Methods for the Diagnosis of Hereditary Amyloidoses

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Amyloid and Related Disorders

Part of the book series: Current Clinical Pathology ((CCPATH))

Abstract

As described elsewhere in this book, amyloids consist of fibrils composed of stacked proteins which have adopted a beta-pleated sheet conformation. The mechanism by which a protein, which has substantial alpha-helical character, refolds into a configuration with a primarily beta-pleated sheet structure is unclear and is the subject of much ongoing research. It is clear, however, that specific amino acid substitutions in a small number of circulating proteins can accelerate or facilitate this process.

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Acknowledgments

The authors would like to thank Steven R. Zeldenrust, MD, PhD, Consultant, Division of Hematology, Mayo Clinic, Rochester, MN for his editorial help and clinical support; Jason Theis and Karen Schowalter for their assistance in the mass spectrometry and molecular genetics laboratories, respectively, at Mayo Clinic, Rochester, MN; Tad Holtegaard and Cindy McFarlin for their technical support; and Debbie Johnson for her administrative support.

Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA

    S. Michelle Shiller D.O. & Ahmet Dogan M.D., Ph.D.

  2. Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Kimiyo M. Raymond M.D.

  3. Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA

    W. Edward Highsmith Jr. Ph.D.

Authors
  1. S. Michelle Shiller D.O.
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  2. Ahmet Dogan M.D., Ph.D.
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  3. Kimiyo M. Raymond M.D.
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  4. W. Edward Highsmith Jr. Ph.D.
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Corresponding author

Correspondence to W. Edward Highsmith Jr. Ph.D. .

Editor information

Editors and Affiliations

  1. Bldg#110, Rm#2242, Department of Pathology, Loyola University Medical Center, S. First Avenue 2160, Maywood, 60153, Illinois, USA

    Maria M. Picken MD, PhD, FASN

  2. , Department of Laboratory Medicine and Pa, Mayo Clinic, First Street SW 200, Rochester, 55905, USA

    Ahmet Dogan, M.D., Ph.D.

  3. , Department of Renal Pathology, Bostwick Laboratories, Lake Ellenor Dr. 8001, Orlando, 32809, Florida, USA

    Guillermo A. Herrera, M.D.

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Shiller, S.M., Dogan, A., Raymond, K.M., Highsmith, W.E. (2012). Laboratory Methods for the Diagnosis of Hereditary Amyloidoses. In: Picken MD, PhD, FASN, M., Dogan, M.D., Ph.D., A., Herrera, M.D., G. (eds) Amyloid and Related Disorders. Current Clinical Pathology. Humana Press. https://doi.org/10.1007/978-1-60761-389-3_24

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  • DOI: https://doi.org/10.1007/978-1-60761-389-3_24

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-60761-388-6

  • Online ISBN: 978-1-60761-389-3

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