Human Mutation

Cover image for Human Mutation

1992

Volume 1, Issue 5

Pages fmi–fmi, 357–434

  1. Masthead

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

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010501

  2. Review Article

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editor
    1. Illegitimate transcription: Its use in the study of inherited disease (pages 357–360)

      Jean-Claude Kaplan, Axel Kahn and Jamel Chelly

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010502

  3. Mutation Update

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editor
  4. Research Articles

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editor
    1. Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains (pages 366–374)

      Harry C. Dietz, Jorge M. Saraiva, Reed E. Pyeritz, Garry R. Cutting and Clair A. Francomano

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010504

    2. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes (pages 375–379)

      V. Nunes, T. Casals, A. Gaona, G. Antiñolo, J. Ferrer-Calvete, J. Pérez-Frias, E. Tardío, J. Molano and X. Estivill

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010505

    3. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (pages 380–387)

      Theresa V. Strong, Lisa S. Smit, Samya Nasr, Deborah L. Wood, Jeffrey L. Cole, Michael C. Iannuzzi, Robert C. Stern and Francis S. Collins

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010506

    4. A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene (pages 388–391)

      Hans Geir Eiken, Per M. Knappskog, Jaran Apold, Leif Skjelkvåle and Helge Boman

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010507

    5. CRIM-positive mutations of acute intermittent porphyria in Finland (pages 392–396)

      R. Kauppinen, L. Peltonen, H. Pihlaja and P. Mustajoki

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010508

    6. An N-acetylgalactosamine-4-sulfatase mutation (ΔG238) results in a severe Maroteaux-Lamy phenotype (pages 397–402)

      Tom Litjens, C. Phillip Morris, Evelyn F. Robertson, Christoph Peters, Kurt von Figura and John J. Hopwood

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010509

  5. Methods

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editor
    1. Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA (pages 403–416)

      Charlene J. Williams, David A. Harrison, Ian Hopkinson, Clinton T. Baldwin, N. Nina Ahmad, Leena Ala-Kokko, Richard M. Korn, Paul G. Buxton, Jeffrey Dimascio, Eileen L. Considine and Darwin J. Prockop

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010510

    2. A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction (pages 417–419)

      Klara R. Birikh, Oleg V. Plutalov, Eugene I. Schwartz, P. Sundari Devi and Yuri A. Berlin

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010511

  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
    8. Letter to the Editor
    1. A novel β-thalassemia mutation (G[RIGHTWARDS ARROW]A) at the initiation codon of the β-globin gene (pages 420–422)

      L. Saba, A. Meloni, R. Sardu, M. Travi, P. Primignani, M. C. Rosatelli and A. Cao

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010512

    2. Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants (pages 423–427)

      Guo-Shun He, Marie E. Grace and Gregory A. Grabowski

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010513

    3. Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families (pages 428–431)

      José Manuel Soria, Jordi Fontcuberta, Montserrat Borrell, Xavier Estivill and Núria Sala

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010514

    4. Identification of a new splicing mutation (406-1 G-C) in the CFTR gene (pages 432–433)

      A. Bonizzato, E. Nicolis and P. Gasparini

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010515

  7. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Review Article
    4. Mutation Update
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editor
    1. Gene duplication in evolution (page 434)

      Robert C. Baumiller, Xiuyuan Hu and Ronald G. Worton

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010516

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