Human Mutation

Cover image for Human Mutation

December 2003

Volume 22, Issue 6

Pages 423–499

  1. Rapid Communications

    1. Top of page
    2. Rapid Communications
    3. Research Articles
    4. Erratum
    5. Mutations in Brief
    1. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: Toward a theory of genetic modifiers (pages 423–427)

      Verena Wiest, Ingrid Eisenbarth, Claudia Schmegner, Winfrid Krone and Günter Assum

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10272

  2. Research Articles

    1. Top of page
    2. Rapid Communications
    3. Research Articles
    4. Erratum
    5. Mutations in Brief
    1. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency (pages 442–450)

      Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto, Patrizia Malaspina, Gajja S. Salomons, George D. Maropoulos, Cornelis Jakobs, Markus Grompe and K. Michael Gibson

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10288

    2. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF) (pages 451–456)

      Montserrat Rodríguez-Ballesteros, Francisco J. del Castillo, Yolanda Martín, Miguel A. Moreno-Pelayo, Constantino Morera, Félix Prieto, Jaime Marco, Antonio Morant, Jaime Gallo-Terán, Carmelo Morales-Angulo, Cristina Navas, Germán Trinidad, M. Cruz Tapia, Felipe Moreno and Ignacio del Castillo

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10274

    3. Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome (pages 465–475)

      Jian Hui Wu, Bruce Gottlieb, Gerald Batist, Traian Sulea, Enrico O. Purisima, Lenore K. Beitel and Mark Trifiro

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10279

    4. CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-rime PCR (pages 476–485)

      Elke Schaeffeler, Matthias Schwab, Michel Eichelbaum and Ulrich M. Zanger

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10280

    5. Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele (pages 486–492)

      Makiko Yasuda, Junaid Shabbeer, Stacy D. Benson, Irene Maire, Roger M. Burnett and Robert J. Desnick

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10275

  3. Erratum

    1. Top of page
    2. Rapid Communications
    3. Research Articles
    4. Erratum
    5. Mutations in Brief
    1. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome (page 493)

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

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10293

    2. Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot (pages 494–495)

      Antonio Pizzuti, Anna Sarkozy, Anthea L. Newton, Emanuela Conti, Elisabetta Flex, Maria Cristina Digilio, Francesca Amati, Debora Gianni, Caterina Tandoi, Bruno Marino, Merlin Crossley and Bruno Dallapiccola

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.10308

  4. Mutations in Brief

    1. Top of page
    2. Rapid Communications
    3. Research Articles
    4. Erratum
    5. Mutations in Brief
    1. You have free access to this content
      Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations (page 496)

      Velamakanni Saroj Kiran, Chitra Kannabiran, Kalyana Chakravarthi, Geeta K. Vemuganti and Santosh G. Honavar

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9196

    2. You have free access to this content
      Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France (page 496)

      Evelyne Colomb, Josseline Kaplan and Henri-Jean Garchon

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9197

    3. You have free access to this content
      A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1 (pages 496–497)

      R.M. Brown, R.A. Head, I.I. Boubriak, J.V. Leonard and G.K. Brown

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9198

    4. You have free access to this content
      Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene (page 497)

      Runa Njålsson, Katarina Carlsson, Andreas Winkler, Agne Larsson and Svante Norgren

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9199

    5. You have free access to this content
      Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2 (page 497)

      David P. Cregeen, Emma L. Williams, Sally Hulton and Gill Rumsby

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9200

    6. You have free access to this content
      Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects (page 498)

      Eva Gross, Tobias Ullrich, Katharina Seck, Volkmar Mueller, Maike de Wit, Christoph von Schilling, Alfons Meindl, Manfred Schmitt and Marion Kiechle

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9201

    7. You have free access to this content
      Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema (page 498)

      Lajos Kalmár, András Bors, Henriette Farkas, Szilvia Vas, Barbara Fandl, Lilian Varga, György Füst and Attila Tordai

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9202

    8. You have free access to this content
      POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions (pages 498–499)

      Alessio Di Fonzo, Andreina Bordoni, Marco Crimi, Galbiati Sara, Roberto Del Bo, Nereo Bresolin and Giacomo P. Comi

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9203

    9. You have free access to this content
      NDP gene mutations in 14 French families with Norrie disease (page 499)

      Ghislaine Royer, Sylvain Hanein, Valérie Raclin, Nadine Gigarel, Jean-Michel Rozet, Arnold Munnich, Julie Steffann, Jean-Louis Dufier, Josseline Kaplan and Jean-Paul Bonnefont

      Version of Record online: 10 NOV 2003 | DOI: 10.1002/humu.9204

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