Human Mutation

Cover image for Human Mutation

1994

Volume 4, Issue 1

Pages fmi–fmi, 1–81

  1. Masthead

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

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040101

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations (pages 1–11)

      Roland G. Roberts, Rebecca J. Gardner and Martin Bobrow

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040102

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Scanning method to establish the molecular basis of protein C deficiencies (pages 20–30)

      S. Gandrille, M. Goossens and M. Aiach

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040104

    2. (ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations (pages 31–41)

      Robin J. Olds, David A. Lane, Vijoy Chowdhury, Geza Sas, Ingrid Pabinger, Karin Auberger and Swee Lay Thein

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040105

    3. Detecting prion protein gene mutations by denaturing gradient gel electrophoresis (pages 42–50)

      John K. Fink, Michael L. Peacock, James T. Warren Jr., Allen D. Roses and Stanley B. Prusiner

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040106

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Letter to the Editor
    1. High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis (pages 51–54)

      François Rousseau, Richard Réhel, Patricia Rouillard, Pierre DeGranpré and Edward W. Khandjian

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040107

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Letter to the Editor
    1. Seven new mutations in the human ornithine transcarbamylase gene (pages 57–60)

      Mendel Tuchman, Robert J. Plante, Mark T. McCann and Amber A. Qureshi

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040109

    2. A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis (pages 61–64)

      Alessandra Ferlini, Maria Cristina Patrosso, Monica Repetto, Annalisa Frattini, Anna Villa, Sergio Fini, Fabrizio Salvi, Paolo Vezzoni and Antonino Forabosco

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040110

    3. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction (pages 65–70)

      Thilo Dörk, Katrin Will, Klaus Grade, Michael Krawczak and Burkhard Tümmler

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040111

    4. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency (pages 76–78)

      Pauline H. Yen, Giovanni B. Ferrero, A. Craig Chinault, Thuluvancheri Mohandas and Andrea Ballabio

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040114

  6. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Letter to the Editor
    1. North Eurasian origin of the myotonic dystrophy mutation (pages 79–81)

      Giuseppe Novelli, Gabriella Spedini, Giovanni Destro-Bisol, Massimo Gennarelli, Cristina Fattorini and Bruno Dallapiccola

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380040115

SEARCH

SEARCH BY CITATION