Human Mutation

Cover image for Human Mutation

1994

Volume 3, 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
    1. Masthead (page fmi)

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030101

  2. Mutation Updates

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Mutations causing gaucher disease (pages 1–11)

      Mia Horowitz and Ari Zimran

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030102

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families (pages 12–18)

      David J. Koorey, Geoffrey W. McCaughan, Ronald J. Trent and Neil D. Gallagher

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030103

    2. DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype? (pages 25–28)

      Ellen Sidransky, Anja Bottler, Barbara Stubblefield and Edward I. Ginns

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030105

    3. Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy (pages 29–36)

      Kirsi Huoponen, Vesa Juvonen, Antti Iitiä, Patrik Dahlen, Harri Siitari, Pertti Aula, Eeva Nikoskelainen and Marja-Liisa Savontaus

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030106

    4. A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy (pages 37–43)

      G. Silvestri, F. M. Santorelli, S. Shanske, C. B. Whitley, L. A. Schimmenti, S. A. Smith and S. DiMauro

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030107

    5. Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma (pages 44–51)

      Mitsuo V. Kato, Kanji Ishizaki, Junya Toguchida, Akihiro Kaneko, Jun Takayama, Hiroshi Tanooka, Tomohisa Kato, Takashi Shimizu and Masao S. Sasaki

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030108

    6. Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries (pages 52–58)

      Yuanhong Ma, Ming-Sun Liu, David Chitayat, Taco Bruin, Ulrike Beisiegel, Pascale Benlian, Luc Foubert, Jean Luc De Gennes, Harald Funke, Ian Forsythe, Shirley Blaichman, Maria Papanikolaou, D. W. Erkelens, John Kastelein, John D. Brunzell and Michael R. Hayden

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030109

  4. Methods

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Reverse dot blot probes for the screening of β-thalassernia mutationsin Asians and American blacks (pages 59–63)

      Shi-Ping Cai, Jeff Wall, Yuet Wai Kan and Farid F. Chehab

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030110

  5. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Mutation in Briefs
    1. Three novel mutations (I506S, S466X, 1651A[RIGHTWARDS ARROW]T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent (pages 64–66)

      Annette Deufel, Thomas Deufel, Astrid Golla, Helene Achatz, Rosemarie Bertele-Harms, Adelbert A. Roscher and Thomas Meitinger

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030111

    2. Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency (pages 67–68)

      Astrid Golla, Annette Deufel, Christa Aulehla-Scholz, Ingolf Böhm, Bruno Hilz, Thomas Meitinger and Thomas Deufel

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030112

    3. Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene (pages 69–70)

      Thierry Bienvenu, Gérard Lenoir, Nuria Fonknechten, François Desclaux-Arramond, Jean Claude Kaplan and Cherif Beldjord

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030113

    4. A novel δº-Thalassemia mutation: TGG[RIGHTWARDS ARROW]TAG (TRP[RIGHTWARDS ARROW]STOP) at codon 37 (pages 71–72)

      D. Gasperini, L. Perseu, P. Cossu, R. Podda, A. Cao and R. Galanello

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030114

    5. C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome (pages 73–75)

      A. Villa, D. Strina, P. Macchi, M. C. Patrosso, P. Vezzoni, P. A. Tovo, S. Giliani, A. G. Ugazio and L. D. Notarangelo

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030115

    6. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene (pages 76–78)

      Smita M. Purandare, H. Rosemary Davidson, W. George Lanyon and J. Michael Connor

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380030116

SEARCH

SEARCH BY CITATION