Human Mutation

Cover image for Human Mutation

1994

Volume 3, Issue 2

Pages fmi–fmi, 83–169

  1. Masthead

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Masthead (page fmi)

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030201

  2. Review Articles

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Mutation detection by denaturing gradient gel electrophoresis (DGGE) (pages 83–94)

      Riccardo Fodde and Monique Losekoot

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030202

    2. Genetic basis of inherited peripheral neuropathies (pages 95–102)

      Ueli Suter and Pragna I. Patel

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030203

  3. Mutation Updates

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor
  4. Research Articles

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis (pages 112–120)

      Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard and Alessandra d'Azzo

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030205

    2. Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate (pages 121–125)

      Marie Luise Bisgaard, Kirsten Fenger, Steffen Bülow, Erik Niebuhr and Jan Mohr

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030206

    3. Exhaustive analysis of the P53 gene coding sequence by denaturing gradient gel electrophoresis: Application to the detection of point mutations in acute leukemias (pages 126–132)

      J. M. Pignon, I. Vinatier, P. Fanen, P. Jonveaux, O. Tournilhac, M. Imbert, H. Rochant and M. Goossens

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030207

    4. Identification of a point mutation and germinal mosaicism in a duchenne muscular dystrophy family (pages 133–140)

      Stephen D. Wilton, David C. Chandler, Byron A. Kakulas and Nigel G. Laing

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030208

    5. Identification of rare and novel mutations in the CFTR genes of CF patients in Southern England (pages 141–151)

      Sue Shackleton, Jeremy Hull, Simon Dear, Anneke Seller, Anne Thomson and Ann Harris

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030209

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor
    1. A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient (pages 156–158)

      Patricia Aguilar-Martinez, Marie-Catherine Romey, Jean-Christophe Gris, Jean-François Schved, Jacques Demaille and Mireille Claustres

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030211

    2. Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques (pages 159–162)

      Caroline Hayward, Mary E. M. Porteous and David J. H. Brock

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030212

    3. Sequence of the —530 region of the β-globin gene of sickle cell anemia patients with the Arabian haplotype (pages 163–165)

      Fan-yi Zeng, Griffin P. Rodgers, Shu-zhen Huang, Alan N. Schechter, Mohammad Salamah, Susan Perrine and Patricia E. Berg

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030213

  6. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Review Articles
    4. Mutation Updates
    5. Research Articles
    6. Mutation in Briefs
    7. Letter to the Editor

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