Research Article

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome†

  1. Jan D. Marshall1,
  2. Elizabeth G. Hinman1,
  3. Gayle B. Collin1,
  4. Sebastian Beck2,3,
  5. Rita Cerqueira3,
  6. Pietro Maffei4,
  7. Gabriella Milan4,
  8. Weidong Zhang1,
  9. David I. Wilson5,
  10. Tom Hearn5,
  11. Purificação Tavares3,
  12. Roberto Vettor4,
  13. Caterina Veronese4,
  14. Mitchell Martin6,
  15. W. Venus So6,
  16. Patsy M. Nishina1,
  17. Jürgen K. Naggert1,*

Article first published online: 26 JUN 2007

DOI: 10.1002/humu.20577

Issue

Human Mutation

Human Mutation

Volume 28, Issue 11, pages 1114–1123, November 2007

Additional Information

How to Cite

Marshall, J. D., Hinman, E. G., Collin, G. B., Beck, S., Cerqueira, R., Maffei, P., Milan, G., Zhang, W., Wilson, D. I., Hearn, T., Tavares, P., Vettor, R., Veronese, C., Martin, M., So, W. V., Nishina, P. M. and Naggert, J. K. (2007), Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum. Mutat., 28: 1114–1123. doi: 10.1002/humu.20577

Author Information

  1. 1

    The Jackson Laboratory, Bar Harbor, Maine

  2. 2

    Department of Neonatology and Pediatric Intensive Care, University of Greifswald, Greifswald, Germany

  3. 3

    Centro de Genética Clínica, Porto, Portugal

  4. 4

    Department of Medical and Surgical Sciences, University of Padua, Padua, Italy

  5. 5

    Division of Human Genetics, Southampton University, Southampton, United Kingdom

  6. 6

    Department of Research Informatics, Genetics and Genomics, Hoffmann-La Roche, Nutley, New Jersey

*The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609

  1. †

    This article is a US Government work and, as such, is in the public domain in the United States of America.

Publication History

  1. Issue published online: 11 OCT 2007
  2. Article first published online: 26 JUN 2007
  3. Manuscript Accepted: 15 MAY 2007
  4. Manuscript Received: 26 NOV 2006

Funded by

  • Diabetes UK
  • British Heart Foundation
  • National Institutes of Health (NIH). Grant Numbers: HD36878, CA34196
  • Italian Ministry of Education, University and Research (MIUR). Grant Number: RIN prot. 2005060925_002

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