Human Mutation

Cover image for Human Mutation

March 2004

Volume 23, Issue 3

Pages 209–287

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Mutations in Brief
  2. Databases

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Mutations in Brief
    1. Gross rearrangement breakpoint database (GRaBD™) (pages 219–221)

      Shaun S. Abeysinghe, Peter D. Stenson, Michael Krawczak and David N. Cooper

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.20006

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Mutations in Brief
    1. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis (pages 222–228)

      Chelsee Hewitt, Derek McCormick, Gerry Linden, Dusan Turk, Igor Stern, Ian Wallace, Louise Southern, Liqun Zhang, Rebecca Howard, Pedro Bullon, Melanie Wong, Richard Widmer, Khaled Abdul Gaffar, Lama Awawdeh, Jim Briggs, Reza Yaghmai, Ethlin W. Jabs, Peter Hoeger, Oliver Bleck, Stefan G. Rüdiger, Gregor Petersilka, Maurizio Battino, Peter Brett, Faiez Hattab, Mohamed Al-Hamed, Philip Sloan, Carmel Toomes, Mike Dixon, Jacqueline James, Andrew P. Read and Nalin Thakker

      Article first published online: 10 FEB 2004 | DOI: 10.1002/humu.10314

    2. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy (pages 229–233)

      L. Karageorgos, P. Harmatz, J. Simon, A. Pollard, P. R. Clements, D. A. Brooks and John J. Hopwood

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.10313

    3. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (pages 234–244)

      Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke and David Ravine

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.20004

    4. APECED-causing mutations in AIRE reveal the functional domains of the protein (pages 245–257)

      Maria Halonen, Hannele Kangas, Taina Rüppell, Tanja Ilmarinen, Juha Ollila, Meelis Kolmer, Mauno Vihinen, Jorma Palvimo, Jani Saarela, Ismo Ulmanen and Petra Eskelin

      Article first published online: 10 FEB 2004 | DOI: 10.1002/humu.20003

    5. A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activity (pages 258–266)

      Marià Pitarque, Oliver von Richter, Cristina Rodríguez-Antona, Jue Wang, Mikael Oscarson and Magnus Ingelman-Sundberg

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.20002

    6. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR (pages 278–284)

      Isabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, Laurence Taine, Didier Lacombe and Benoît Arveiler

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.20001

  4. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Mutations in Brief
    1. You have free access to this content
      Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue (page 285)

      Jens Plaschke, Stefan Krüger, Wolfgang Dietmaier, Johannes Gebert, Christian Sutter, Elisabeth Mangold, Constanze Pagenstecher, Elke Holinski-Feder, Karsten Schulmann, Gabriela Möslein, Josef Rüschoff, Christoph Engel, Gareth Evans and Hans K. Schackert

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.9217

    2. You have free access to this content
      Molecular characterization of familial hypercholesterolemia in German and Greek patients (pages 285–286)

      George V. Z. Dedoussis, Janine Genschel, Bettina Bochow, Christos Pitsavos, John Skoumas, Margarita Prassa, Sodnomtsogt Lkhagvasuren, Pavlos Toutouzas, Anja Vogt, Ursula Kassner, Hans-P. Thomas and Hartmut Schmidt

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.9218

    3. You have free access to this content
      BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia (page 286)

      Maurilia Fiorini, Roberta Franceschini, Annarosa Soresina, Richard-Fabian Schumacher, Alberto G. Ugazio, Paolo Rossi, Alessandro Plebani and Luigi D. Notarangelo

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.9219

    4. You have free access to this content
      A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype (page 286)

      Antonio Pizzuti, Elisabetta Flex, Rita Mingarelli, Carmelo Salpietro, Leopoldo Zelante and Bruno Dallapiccola

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.9220

    5. You have free access to this content
      Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome (page 287)

      Helen E. MacLean, Emma M.A. Ball, Georgia Rekaris, Garry L. Warne and Jeffrey D. Zajac

      Article first published online: 9 FEB 2004 | DOI: 10.1002/humu.9221

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