Human Mutation

Cover image for Human Mutation

1993

Volume 2, Issue 3

Pages fmi–fmi, 159–244

  1. Masthead

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020301

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Announcements
    1. Mutations and polymorphisms in the prion protein gene (pages 168–173)

      Mark S. Palmer and John Collinge

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020303

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Announcements
    1. Molecular characterisation of Vietnamese HPFH (pages 179–184)

      Penelope I. Motum, Tracey J. Hamilton, Robert Lindeman, Huong Le and Ronald J. Trent

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020305

    2. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations (pages 185–191)

      Bruno Costes, Pascale Fanen, Michel Goossens and Nada Ghanem

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020306

    3. Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis (pages 192–195)

      Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Arthur H. M. Burghes, Mary S. Sedra, Lorraine M. Western, Claire Bartolo and Jerry R. Mendell

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020307

    4. Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta (pages 196–204)

      Monica Mottes, M. Gomez Macarena Lira, Maurizia Valli, Gioacchino Scarano, Fortunato Lonardo, Antonella Forlino, Giuseppe Cetta and Pier Franco Pignatti

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020308

    5. A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa (pages 205–213)

      Joseph A. Rodriguez, Carlos A. Herrera, David G. Birch and Stephen P. Daiger

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020309

    6. Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families (pages 214–220)

      Toshiyuki Fukao, Seiji Yamaguchi, Charles R. Scriver, Gail Dunbar, Akihiro Wakazono, Masatsugu Kano, Tadao Orii and Takashi Hashimoto

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020310

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Announcements
    1. A molecular approach to estimating the human deleterious mutation rate (pages 229–234)

      Alexey S. Kondrashov and James F. Crow

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020312

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Announcements
    1. Caveat to genotype–phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene (pages 235–237)

      Chester B. Whitley, Rose Ann Anderson, Elena L. Aronovich, Paul L. Crotty, Kwame Anyane-Yeboa, Donna Russo and Dorothy Warburton

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020313

    2. Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria (pages 238–239)

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020314

    3. The APC (adenomatous polyposis coli) gene: A novel mutation in an FAP patient and a DdeI polymorphism in the 5′ noncoding region (pages 240–243)

      Takahiro Mori, Hiroki Nagase, Takahisa Aoki, Hirofumi Arakawa, Tetsuro Nishihira, Shozo Mori and Yusuke Nakamura

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020315

  6. Announcements

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    7. Announcements
    1. Announcement (page 244)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020316

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