Human Mutation

Cover image for Human Mutation

1992

Volume 1, Issue 2

Pages fmi–fmi, 91–173

  1. Masthead

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

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010201

  2. Review Article

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. The unstable and methylatable mutations causing the fragile X syndrome (pages 91–96)

      François Rousseau, Dominique Heitz and Jean-Louis Mandel

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010202

  3. Mutation Update

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene (pages 97–102)

      H.-H. M. Dahl, G. K. Brown, R. M. Brown, L. L. Hansen, D. S. Kerr, I. D. Wexler, M. S. Patel, L. de Meirleir, W. Lissens, K. Chun, N. MacKay and B. H. Robinson

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010203

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype (pages 103–108)

      Hamish S. Scott, Tom Litjens, John J. Hopwood and C. Phillip Morris

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010204

    2. Prevalence of cystic fibrosis mutations in the East German population (pages 109–112)

      Charles Coutelle, Roland Brückner, Klaus Grade, Frauke Behrens, Jürgen Gedschold, Jutta Hein, Reinhard Szibor, Ingrid Bauer, Joseph Brock, Ina Graupner, Udo Urner and Barbara Leucht

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010205

    3. A novel β-globin structural mutant, Hb Brescia (β114 Leu-Pro), causing a severe β-thalassemia intermedia phenotype (pages 124–128)

      S. Murru, D. Poddie, G. V. Sciarratta, S. Agosti, M. Baffico, C. Melevendi, M. Pirastu and A. Cao

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010207

    4. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12 (pages 129–137)

      Elisabeth Sevensson, Randy C. Eisensmith, Bernd Dworniczak, Ulrika von Döbeln, Lars Hagenfeldt, Jürgen Horst and Savio L. C. Woo

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010208

    5. Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot? (pages 138–146)

      Bernd Dworniczak, Luba Kalaydjieva, Sabine Pankoke, Christa Aulehla-Scholz, Gregory Allen and Jürgen Horst

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010209

    6. In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus (pages 147–153)

      Simon W. M. John, Charles R. Scriver, Rachel Laframboise and Rima Rozen

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010210

    7. Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria (pages 154–158)

      Susan J. Ramus, Susan M. Forrest and Richard G. H. Cotton

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010211

  5. Methods

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations (pages 159–164)

      Toni R. Prezant and Nathan Fischel-Ghodsian

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010212

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    1. Missense variation of the CFTR gene codon 507 (page 165)

      Katrin Will, Manfred Stuhrmann, Helmut Ellemunter, Nikola Hoffknecht and Jörg Schmidtke

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010213

    2. A novel δ-thalassemia mutation A G[RIGHTWARDS ARROW]C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin (pages 169–171)

      G. Loudianos, S. Murru, M. S. Ristaldi, P. Cossu, G. Pilia, S. Porcu, G. V. Sciarratta, M. I. Parodi, A. Cao and M. Pirastu

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010215

    3. Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy (pages 172–173)

      Xiuyuan Hu, Dennis E. Bulman, Peter N. Ray and Ronald G. Worton

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380010216

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