Human Mutation

Cover image for Human Mutation

November 2002

Volume 20, Issue 5

Pages 325–410

  1. Review Article

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. The detection of large deletions or duplications in genomic DNA (pages 325–337)

      J.A.L. Armour, D.E. Barton, D.J. Cockburn and G.R. Taylor

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10133

  2. Databases

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. The human SHOX mutation database (pages 338–341)

      Beate Niesler, Christine Fischer and Gudrun A. Rappold

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10125

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. Novel PEX1 mutations and genotype–phenotype correlations in Australasian peroxisome biogenesis disorder patients (pages 342–351)

      Megan A. Maxwell, Tamara Allen, Pamela B. Solly, Terje Svingen, Barbara C. Paton and Denis I. Crane

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10128

    2. You have free access to this content
      A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast–ovarian cancer families (pages 352–357)

      Catherine M. Phelan, Elaine Kwan, Elaine Jack, Song Li, Cindy Morgan, Jennifer Aubé, Danielle Hanna and Steven A. Narod

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10123

    3. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features (pages 358–367)

      Maria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, Gabriella Mastrolonardo, Leonilde Pagano, Lucia Mastrullo, Santa Masciandaro and Clementina Carestia

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10132

    4. Different molecular mechanisms underlie genomic deletions in the MLH1 Gene (pages 368–374)

      Alessandra Viel, Fiorella Petronzelli, Lara Della Puppa, Emanuela Lucci-Cordisco, Mara Fornasarig, Salvatore Pucciarelli, Valentina Rovella, Michele Quaia, Maurizio Ponz de Leon, Mauro Boiocchi and Maurizio Genuardi

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10138

    5. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance (pages 375–381)

      Yutaka Shoji, Atsuko Noguchi, Yasuko Shoji, Mika Matsumori, Yuhei Takasago, Masaki Takayanagi, Yoshihiro Yoshida, Kenji Ihara, Toshiro Hara, Shuichi Yamaguchi, Makoto Yoshino, Masayuki Kaji, Shigenori Yamamoto, Akio Nakai, Akio Koizumi, Youichi Hokezu, Keiji Nagamatsu, Hitoshi Mikami, Isao Kitajima and Goro Takada

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10140

  4. Methods

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome (pages 382–391)

      Roselie Jongbloed, Carlo Marcelis, Crool Velter, Pieter Doevendans, Joep Geraedts and Hubert Smeets

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10131

    2. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations (pages 392–398)

      Chikahiko Numakura, Changqing Lin, Tohru Ikegami, Per Guldberg and Kiyoshi Hayasaka

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10134

  5. Letter to the Editor

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome (pages 399–401)

      Philippe Labrune, Anne Myara, Jacqueline Chalas, Béatrice Le Bihan, Liliane Capel and Jeanne Francoual

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10122

  6. Erratum

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. Novel mutations of APOB cause apoB truncations undetectable in plasma and familial hypobetalipoproteinemia (page 402)

      Pin Yue, Bo Yuan, Daniela S. Gerhard, Rosalind J. Neuman, William L. Isley, William S. Harris and Gustav Schonfeld

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10135

  7. Corrigendum

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. You have free access to this content
      Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion (page 403)

      Johan T. den Dunnen and Stylianos E. Antonarakis

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.10152

  8. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Corrigendum
    9. Mutations in Brief
    1. You have free access to this content
      The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis – novel genomic variants and functional consequences (page 404)

      Susanne Schulz, Undraga Schagdarsurengin, Petra Greiser, Gerd Birkenmeier, Ursula Müller-Werdan, Monika Hagemann, Dagmar Riemann, Karl Werdan and Christiane Gläser

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9070

    2. You have free access to this content
      Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer (pages 404–405)

      Yunqing Li, Sizhong Zhang, Cuiying Xiao, Zhiguang Su, YangBing Zhao, Wei Chen and Ge Zhang

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9071

    3. You have free access to this content
      Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa (page 405)

      Carsten M. Pusch, Martina Broghammer, Bernhard Jurklies, Dorothea Besch and Felix K. Jacobi

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9072

    4. You have free access to this content
      Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations (pages 405–406)

      Alvaro Blanch, Olga Roche, Eduardo López-Granados, Gumersindo Fontán and Margarita López-Trascasa

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9073

    5. You have free access to this content
      Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations (page 406)

      Heidi L. Peters, Mikhael Nefedov, Lai Wah Lee, Jose E. Abdenur, Nestor A. Chamoles, Stephen G. Kahler and Panayiotis A. Ioannou

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9074

    6. You have free access to this content
    7. You have free access to this content
    8. You have free access to this content
      Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma (page 408)

      Kwong Wai Choy, Chi Pui Pang, Christopher B.O. Yu, Hing Lok Wong, Joan S.K. Ng, Dorothy S.P. Fan, Kwok Wai Lo, Joshua T.Y. Chai, Jianhua Wang, Weiling Fu and Dennis S.C. Lam

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9077

    9. You have free access to this content
    10. You have free access to this content
      A collection of 33 novel human mtDNA homoplasmic variants (page 409)

      Marco Crimi, Monica Sciacco, Sara Galbiati, Andreina Bordoni, Giulia Malferrari, Roberto Del Bo, Ida Biunno, Nereo Bresolin and Giacomo P. Comi

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9079

    11. You have free access to this content
      Cyclooxygenase 1 (COX1) polymorphisms in African-American and caucasian populations (pages 409–410)

      Cornelia M Ulrich, Jeannette Bigler, Justin Sibert, Elizabeth A Greene, Rachel Sparks, Christopher S Carlson and John D Potter

      Version of Record online: 25 OCT 2002 | DOI: 10.1002/humu.9080

SEARCH

SEARCH BY CITATION