Research Article

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease†

  1. Andreas Wolf1,
  2. Amke Caliebe1,
  3. Nick S.T. Thomas2,
  4. Edward V. Ball2,
  5. Matthew Mort2,
  6. Peter D. Stenson2,
  7. Michael Krawczak1,*,
  8. David N. Cooper2

Article first published online: 8 SEP 2011

DOI: 10.1002/humu.21547

Issue

Human Mutation

Human Mutation

Volume 32, Issue 10, pages 1137–1143, October 2011

Additional Information

How to Cite

Wolf, A., Caliebe, A., Thomas, N. S.T., Ball, E. V., Mort, M., Stenson, P. D., Krawczak, M. and Cooper, D. N. (2011), Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Hum. Mutat., 32: 1137–1143. doi: 10.1002/humu.21547

Author Information

  1. 1

    Institut für Medizinische Informatik und Statistik, Christian-Albrechts-Universität zu Kiel, Kiel, Germany

  2. 2

    Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom

*Institut für Medizinische Informatik und Statistik, Christian-Albrechts-Universität zu Kiel, Arnold-Heller-Straße 3, Haus 31, Kiel 24105, Germany

  1. †

    Communicated by George P. Patrinos

Publication History

  1. Issue published online: 19 SEP 2011
  2. Article first published online: 8 SEP 2011
  3. Accepted manuscript online: 16 JUN 2011 02:10PM EST
  4. Manuscript Accepted: 30 MAY 2011
  5. Manuscript Received: 28 MAR 2011

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