Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

December 2008

Volume 29, Issue 12

Pages 1373–1458

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    1. You have free access to this content
      Granulin mutations associated with frontotemporal lobar degeneration and related disorders: An update (pages 1373–1386)

      I. Gijselinck, C. Van Broeckhoven and M. Cruts

      Article first published online: 9 JUN 2008 | DOI: 10.1002/humu.20785

  2. Rapid Communications

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    1. A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals (pages 1387–1391)

      Doron M. Behar, Jason Blue-Smith, David F. Soria-Hernanz, Shay Tzur, Yarin Hadid, Concetta Bormans, Alexander Moen, Chris Tyler-Smith, Lluis Quintana-Murci and R. Spencer Wells

      Article first published online: 15 JUL 2008 | DOI: 10.1002/humu.20835

  3. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    1. A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene (pages 1392–1404)

      Dianalee A. McKnight, P. Suzanne Hart, Thomas C. Hart, James K. Hartsfield, Anne Wilson, J. Timothy Wright and Larry W. Fisher

      Article first published online: 2 JUN 2008 | DOI: 10.1002/humu.20783

    2. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form (pages 1405–1411)

      Chunyan Mou, Helen A. Thomason, Pamela M. Willan, Christopher Clowes, W. Edwin Harris, Caroline F. Drew, Jill Dixon, Michael J. Dixon and Denis J. Headon

      Article first published online: 17 JUN 2008 | DOI: 10.1002/humu.20795

    3. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects (pages 1412–1424)

      Isabelle Tournier, Myriam Vezain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert-Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg and Mario Tosi

      Article first published online: 16 JUN 2008 | DOI: 10.1002/humu.20796

    4. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme (pages 1425–1434)

      Wendy E. Kutz, Lauren W. Wang, Nathalie Dagoneau, Kazimir J. Odrcic, Valerie Cormier-Daire, Elias I. Traboulsi and Suneel S. Apte

      Article first published online: 19 JUN 2008 | DOI: 10.1002/humu.20797

    5. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta (pages 1435–1442)

      Dustin Baldridge, Ulrike Schwarze, Roy Morello, Jennifer Lennington, Terry K. Bertin, James M. Pace, Melanie G. Pepin, MaryAnn Weis, David R. Eyre, Jennifer Walsh, Deborah Lambert, Andrew Green, Haynes Robinson, Melonie Michelson, Gunnar Houge, Carl Lindman, Judith Martin, Jewell Ward, Emmanuelle Lemyre, John J. Mitchell, Deborah Krakow, David L. Rimoin, Daniel H. Cohn, Peter H. Byers and Brendan Lee

      Article first published online: 19 JUN 2008 | DOI: 10.1002/humu.20799

    6. Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma (pages 1443–1451)

      Chunying Li, Hui Zhao, Zhibin Hu, Zhensheng Liu, Li-E Wang, Jeffrey E. Gershenwald, Victor G. Prieto, Jeffrey E. Lee, Madeleine Duvic, Elizabeth A. Grimm and Qingyi Wei

      Article first published online: 18 JUN 2008 | DOI: 10.1002/humu.20803

  4. Methods

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    1. You have free access to this content
      Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms (pages 1452–1458)

      Simon Mead, Mark Poulter, John Beck, James Uphill, Chris Jones, Cheng Eng Ang, Charles A. Mein and John Collinge

      Article first published online: 12 JUN 2008 | DOI: 10.1002/humu.20782

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