Human Mutation

Cover image for Human Mutation

March 2001

Volume 17, Issue 3

Pages 159–239

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Mutations in the human DHCR7 gene (pages 172–182)

      Martina Witsch-Baumgartner, Judith Löffler and Gerd Utermann

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.2

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles (pages 191–198)

      Rosa Martínez-Arias, David Comas, Eva Mateu and Jaume Bertranpetit

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.4

    2. Molecular analysis of acid ceramidase deficiency in patients with Farber disease (pages 199–209)

      Julia Bär, Thomas Linke, Klaus Ferlinz, Ulrich Neumann, Edward H. Schuchman and Konrad Sandhoff

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.5

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
  4. Letter to the Editor

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Low level mosaicism detectable by DHPLC but not by direct sequencing (pages 233–234)

      Alistair C. Jones, Julian R. Sampson and Jeremy P. Cheadle

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.8

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. You have free access to this content
      Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy (page 235)

      D. Marchant, K. Gogat, S. Boutboul, M. Péquignot, C. Sternberg, P. Dureau, O. Roche, Y. Uteza, J.C. Hache, B. Puech, V. Puech, V. Dumur, M. Mouillon, F.L. Munier, D.F. Schorderet, C. Marsac, J.L. Dufier and M. Abitbol

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.9

    2. You have free access to this content
      Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes (pages 235–236)

      Toshimasa Nakagawa, Toshiyuki Ikemoto, Tohru Takeuchi, Keitaro Tanaka, Nobuhiko Tanigawa, Daisuke Yamamoto and Akira Shimizu

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.10

  6. Mutation and Polymorphism Reports

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letter to the Editor
    6. Mutations in Brief
    7. Mutation and Polymorphism Reports
    1. Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2) (page 237)

      Roger Besançon, Philippe Latour, Konecny Lara, Boutrand Laetitia, Angélique Mularoni, Geneviève Chamba and Antoon Vandenberghe

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.11

    2. Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese (page 237)

      Mei-Chen Wu, Jer-Yuarn Wu, Cheng-Chun Lee, Chang-Hai Tsai and Fuu-Jen Tsai

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.13

    3. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia (page 238)

      H. Rueffert, H. Kraus, D. Olthoff, C. Deutrich and U.G. Froster

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.15

    4. A new human mtDNA polymorphism: MTND6: 14562 (C[RIGHTWARDS ARROW]T) (page 238)

      R. Cittadella, V. Andreoli, I. Manna, R.L. Oliveri and A. Quattrone

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.16

    5. Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat (pages 238–239)

      Vessela N. Kristensen, Anne-Lise Børresen-Dale and Tom Kristensen

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.17

    6. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype (page 239)

      M. Sironi, S. Corti, F. Locatelli, R. Cagliani and G.P. Comi

      Version of Record online: 2 APR 2001 | DOI: 10.1002/humu.18

SEARCH

SEARCH BY CITATION