Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1992

Volume 1, Issue 1

Pages fmi–fmi, 1–80

  1. Masthead

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010101

  2. Editorial

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Editorial (pages 1–2)

      R. G. H. Cotton and Haig H. Kazazian Jr.

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010102

  3. Review Article

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Partial gene duplication as a cause of human disease (pages 3–12)

      Xiuyuan Hu and Ronald G. Worton

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010103

  4. Mutation Update

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene (pages 13–23)

      Randy C. Eisensmith and Savio L. C. Woo

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010104

  5. Research Articles

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome (pages 24–34)

      Mary Anne Berg, Jaime Guevara-Aguirre, Arlan L. Rosenbloom, Ron G. Rosenfeld and Uta Francke

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010105

    2. A glycine250 → aspartate substitution in the α-subunit of hexosaminidase a causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family (pages 35–39)

      Isabelle Trop, Feige Kaplan, Charlotte Brown, Don Mahuran and Peter Hechtman

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010106

    3. Novel Tay-Sachs disease mutations from China (pages 40–46)

      N. Akalin, H.-P. Shi, G. Vavougios, P. Hechtman, W. Lo, C. R. Scriver, D. Mahuran and F. Kaplan

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010107

    4. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease (pages 47–54)

      Matthew J. Edwards, Richard J. Wenstrup, Peter H. Byers and Daniel H. Cohn

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010108

    5. Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch (pages 55–62)

      John F. Bateman, Ingrid Moeller, Marnie Hannagan, Danny Chan and William G. Cole

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010109

  6. Methods

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Complete mutation detection using unlabeled chemical cleavage (pages 63–69)

      Jennifer A. Saleeba, Susan J. Ramus and Richard G. H. Cotton

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010110

  7. Mutation in Brief

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease (pages 70–71)

      Tsutomu Takahashi, Robert J. Desnick, Goro Takada and Edward H. Schuchman

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010111

  8. Mutation In Briefs

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec (pages 72–74)

      S. W. M. John, R. Rozen, R. Laframboise, C. Laberge and C. R. Scriver

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010112

  9. Mutation In Brief

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients (pages 75–76)

      Miguel Chillón, Ana Palacio, Virginia Nunes, Teresa Casals, Javier Giménez and Xavier Estivill

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010113

  10. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A (pages 77–78)

      Khédoudja Nafa, Marlène Baudis, Nathalie Deburgrave, Jean-Michel Bardin, Yvette Sultan, Jean-Claude Kaplan and Marc Delpech

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010114

  11. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Fabrillin (FBN1) mutations in Marfan syndrome (page 79)

      Caroline Hayward, Marion Keston, David J. H. Brock and Harry C. Dietz

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010115

  12. Announcement

    1. Top of page
    2. Masthead
    3. Editorial
    4. Review Article
    5. Mutation Update
    6. Research Articles
    7. Methods
    8. Mutation in Brief
    9. Mutation In Briefs
    10. Mutation In Brief
    11. Mutation in Briefs
    12. Letter to the Editor
    13. Announcement
    1. Announcement (page 80)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010116

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