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Mutations in Human Genetic Disease

  1. Stylianos E Antonarakis1,
  2. David N Cooper2

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005471



How to Cite

Antonarakis, S. E. and Cooper, D. N. 2006. Mutations in Human Genetic Disease. eLS. .

Author Information

  1. 1

    University of Geneva Medical School, Geneva, Switzerland

  2. 2

    University of Wales College of Medicine, Cardiff, UK

Publication History

  1. Published Online: 27 JAN 2006


Mutations in human genetic disease include single base-pair substitutions in coding, regulatory and splicing-relevant regions of human genes. Other kinds of pathogenic mutations are micro-deletions, micro-insertions, duplications, repeat expansions, combined micro-insertions/deflections (‘indels’), inversions, gross deletions and insertions, and complex rearrangements.


  • mutation;
  • human disease;
  • mutation database;
  • mutation mechanism;
  • mutation consequences;
  • genotype–phenotype correlation