Human Mutation

Cover image for Human Mutation

1995

Volume 5, Issue 1

Pages fmi–fmi, 1–105

  1. Masthead

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050101

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Molecular etiology of factor VIII deficiency in hemophilia A (pages 1–22)

      Stylianos E. Antonarakis, Haig H. Kazazian and Edward G. D. Tuddenham

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050102

  3. Short Communications

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population (pages 23–27)

      Maria Pia Russo, Giovanni Romeo, Marcella Devoto, Guido Barbujani, Giulio Cabrini, Annamaria Giunta, Elena D'Alcamo, Gianbattista Leoni, Federica Sangiuolo, Carmelina Magnani, Laura Cremonesi and Maurizio Ferrari

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050103

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred (pages 28–33)

      Denise D. Belsham, Fred Pereira, Cheryl R. Greenberg, Shutsung Liao and Klaus Wrogemann

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050104

    2. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients (pages 34–42)

      Akihiro Wakazono, Toshiyuki Fukao, Seiji Yamaguchi, Toshinori Hori, Tadao Orii, Marie Lambert, Grant A. Mitchell, Gray W. Lee and Takashi Hashimoto

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050105

    3. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (pages 43–47)

      Julian Zielenski, Danuta Markiewicz, Hai Shien Chen, Keith Schappert, Anneke Seller, Peter Durie, Mary Corey and Lap-Chee Tsui

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050106

    4. Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection (pages 48–57)

      Michael Krawczak, Birgitte Smith-Sorensen, Jörg Schmidtke, Vijay V. Kakkar, David N. Cooper and Eivind Hovig

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050107

    5. Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants (pages 58–65)

      H. J. Menzel, H. Dieplinger, C. Sandholzer, I. Karádi, G. Utermann and A. Császár

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050108

    6. Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype (pages 66–75)

      Fan Chen, Takeshi Kishida, Masahiro Yao, Thomas Hustad, Damjan Glavac, Michael Dean, James R. Gnarra, Mary Lou Orcutt, Fuh Mei Duh, Gladys Glenn, Jane Green, Y. Edward Hsia, James Lamiell, Hua Li, Ming Hui Wei, Laura Schmidt, Kalman Tory, Igor Kuzmin, Tom Stackhouse, Farida Latif, W. Marston Linehan, Michael Lerman and Berton Zbar

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050109

    7. Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation (pages 76–80)

      Linda J. Valentijn, Robert A. Ouvrier, Norbert H. A. Van Den Bosch, Pieter A. Bolhuis, Frank Baas and Garth A. Nicholson

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050110

  5. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology (pages 86–93)

      Cynthia Jou, James Rhoads, Stanley Bouma, Shanfun Ching, Joanell Hoijer, Pamella Schroeder-Poliak, Peter Zaun, Susan Smith, Sue Richards, C. Thomas Caskey and Julian Gordon

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050112

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency (pages 94–96)

      Toshiyuki Fukao, Xiang-Qian Song, Seiji Yamaguchi, Tadao Orii, Ronald J. A. Wanders, Bwee. T. Poll-The and Takashi Hashimoto

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050113

    2. Mutations of the iduronate-2-sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome) (pages 97–100)

      Ewa Popowska, Michaela Rathmann, Anna Tylki-Szymanska, Susanna Bunge, Cordula Steglich, Eberhard Schwinger and Andreas Gal

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050114

    3. A splicing mutation (1898 + 1G[RIGHTWARDS ARROW]T) in the CFTR gene causing cystic fibrosis (pages 101–102)

      Joanna Crawford, Agatha Labrinidis, William F. Carey, Paul V. Nelson, John S. Harvey and C. Phillip Morris

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050115

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Short Communications
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease (pages 103–104)

      P. Seeman, F. Laccone, J. Reiss and G. Stoppe

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380050116

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