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Standardizing mutation nomenclature: Why bother?

  1. Johan T. den Dunnen1,*,
  2. Mark H. Paalman2

Article first published online: 24 JUL 2003

DOI: 10.1002/humu.10262

Issue

Human Mutation

Human Mutation

Volume 22, Issue 3, pages 181–182, September 2003

Additional Information

How to Cite

den Dunnen, J. T. and Paalman, M. H. (2003), Standardizing mutation nomenclature: Why bother?. Hum. Mutat., 22: 181–182. doi: 10.1002/humu.10262

Author Information

  1. 1

    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands

  2. 2

    Managing Editor, Human Mutation, John Wiley & Sons, Inc.

*Mutation Nomenclature Editor, Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands

Publication History

  1. Issue published online: 31 JUL 2003
  2. Article first published online: 24 JUL 2003
  3. Manuscript Received: 11 JUN 2003
  4. Manuscript Accepted: 11 JUN 2003

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REFERENCES

  • Antonarakis SE, Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3.
    Direct Link:
  • Beaudet AL, Tsui LC. 1993. A suggested nomenclature for designating mutations. Hum Mutat 2:245–248.
    Direct Link:
  • Beutler E. 1993. The designation of mutations. Am J Hum Genet 53:783–785.
  • Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F. 1996. Mutation nomenclature: nicknames, systematic names, and unique identifiers. Hum Mutat 8:203–206.
    Direct Link:
  • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12.
    Direct Link:
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