Human Mutation

Cover image for Human Mutation

1993

Volume 2, Issue 1

Pages fmi–fmi, 1–78

  1. Masthead

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

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020101

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center (pages 7–15)

      Monica D. Traystman, Nancy Schulte, John L. Colombo, Paul H. Sammut, Pam Reilly, Christopher Patel, Diane Acquazzino, Barbara Simanek, Rebecca Anderson, William J. Kimberling, G. Bradley Schaefer and Warren G. Sanger

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020103

    2. Detection of more than 94% cystic fibrosis mutations in a sample of belgian population and identification of four novel mutations (pages 16–20)

      B. Mercier, W. Lissens, M. P. Audrézet, M. Bonduelle, I. Liebaers and C. Ferec

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020104

    3. A mutation (met[RIGHTWARDS ARROW]arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex (pages 37–42)

      Marian M. Humphries, Denise M. Sheils, Gwyneth J. Farrar, Rajendra Kumar-Singh, Paul F. Kenna, Fiona C. Mansergh, Siobhan A. Jordan, Marjory Young and Peter Humphries

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020107

    4. Identification of mutations in Danish choroideremia families (pages 43–47)

      Marianne Schwartz, Thomas Rosenberg, José A. J. M. van den Hurk, Dorien J. R. van den Pol and Frans P. M. Cremers

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020108

    5. Molecular characterization of β-thalassemia in Egyptians (pages 48–52)

      Ibtessam R. Hussein, Samia A. Temtamy, Amal El-Beshlawy, Clare Fearon, Zeinab Shalaby, George Vassilopoulos and Haig H. Kazazian Jr.

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020109

    6. Deletions with inversions: Report of a mutation and review of the literature (pages 53–57)

      Rhett P. Ketterling, Darrell O. Ricke, Mark W. Wurster and Steve S. Sommer

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020110

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. A rapid and reliable PCR method for genotyping the ABO blood group (pages 67–70)

      Denise S. O'Keefe and Alexander Dobrovic

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020112

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population (pages 74–76)

      Marta Zygulska, Antonin Eigel, Jacek J. Pietrzyk, Peter Miny and Jürgen Horst

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020114

    2. G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene (pages 77–78)

      Luciano Baronciani, Fernando Tricta and Ernest Beutler

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380020115

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