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Mutation Update

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

  1. Dimitre R. Simeonov1,
  2. Xinjing Wang2,3,
  3. Chen Wang1,2,
  4. Yuri Sergeev2,
  5. Monika Dolinska2,
  6. Matthew Bower3,
  7. Roxanne Fischer1,
  8. David Winer1,
  9. Genia Dubrovsky1,
  10. Joan Z. Balog1,
  11. Marjan Huizing1,
  12. Rachel Hart1,
  13. Wadih M. Zein2,
  14. William A. Gahl1,
  15. Brian P. Brooks1,2,
  16. David R. Adams1,*

Article first published online: 30 APR 2013

DOI: 10.1002/humu.22315

Issue

Human Mutation

Human Mutation

Volume 34, Issue 6, pages 827–835, June 2013

Additional Information

How to Cite

Simeonov, D. R., Wang, X., Wang, C., Sergeev, Y., Dolinska, M., Bower, M., Fischer, R., Winer, D., Dubrovsky, G., Balog, J. Z., Huizing, M., Hart, R., Zein, W. M., Gahl, W. A., Brooks, B. P. and Adams, D. R. (2013), DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Hum. Mutat., 34: 827–835. doi: 10.1002/humu.22315

Author Information

  1. 1

    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

  2. 2

    National Eye Institute, National Institutes of Health, Bethesda, Maryland

  3. 3

    Division of Genetics and Metabolism, University of Minnesota Medical Center, Fairview, Minneapolis, Minnesota

*Correspondence to: David R. Adams, National Institutes of Health, 10/10C103B, 10 Center Drive, Bethesda, MD 20892. E-mail: dadams1@mail.nih.gov

  1. Contract grant sponsor: NIH.

  2. Communicated by William S. Oetting

Publication History

  1. Issue published online: 20 MAY 2013
  2. Article first published online: 30 APR 2013
  3. Accepted manuscript online: 16 MAR 2013 05:58PM EST
  4. Manuscript Accepted: 8 MAR 2013
  5. Manuscript Received: 12 OCT 2012

Funded by

  • NIH

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