Human Mutation

Cover image for Human Mutation

1994

Volume 3, Issue 4

Pages fmi–fmi, 339–419

  1. Masthead

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030401

  2. Short Communication

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population (pages 339–341)

      Michael A. Whitney, Petra Jakobs, Michael Kaback, Robb E. Moses and Markus Grompe

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030402

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. APC and p53 mutations in de novo colorectal adenocarcinomas (pages 342–346)

      Takahisa Aoki, Satoshi Takeda, Akio Yanagisawa, Yo Kato, Yoichi Ajioka, Hidenobu Watanabe, Shinei Kudo and Yusuke Nakamura

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030403

    2. Two NF1 mutations: Frameshift in the GAP-related domain, and loss of two codons toward the 3′ end of the gene (pages 347–352)

      Corinne R. Abernathy, Steven D. Colman, Boris G. Kousseff and Margaret R. Wallace

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030404

    3. Cystic fibrosis patients from the black sea region: The 1677delTA mutation (pages 353–357)

      D. Angelicheva, K. Boteva, A. Jordanova, A. Savov, A. Kufardjieva, A. Tolun, M. Telatar, A. Akarsubaşi, F. Köprübaşi, S. Aydoǧdu, M. Demirkol, G. Kurdoǧlu, C. D. Constantinou-Deltas, C. Georgiou, M. Dean, T. Ivaschenko, V. Baranov and L. Kalaydjieva

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030405

    4. Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers–Danlos syndrome type VII (pages 358–364)

      Ken K. Y. Ho, Richard Y. C. Kong, Tamara Kuffner, Louis H. S. Hsu, Lily Ma and Kathryn S. E. Cheah

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030406

    5. New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines (pages 365–372)

      I. Banchs, A. Bosch, J. Guimerà, C. Lázaro, A. Puig and X. Estivill

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030407

  4. Mutation Update

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. Mutations in Steroid 21-Hydroxylase (CYP21) (pages 373–378)

      Perrin C. White, Maria-Teresa Tusie-Luna, Maria I. New and Phyllis W. Speiser

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030408

  5. Methods

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. A novel frameshift deletion in type IV collagen α5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5 (pages 386–390)

      Bernard Peissel, Sandro Rossetti, Alessandra Renieri, Lucia Galli, Mario De Marchi, Graziana Battini, Mietta Meroni, Adalberto Sessa, Salvatore Schiavano, Pier Franco Pignatti and Alberto E. Turco

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030410

    2. A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene (pages 395–396)

      T. Bienvenu, P. Petitpretz, C. Beldjord and J. C. Kaplan

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030412

    3. A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband (pages 397–398)

      Pawan K. Jain, Andrée M. Dozy, I. C. Verma and Farid F. Chehab

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030413

    4. Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis (pages 399–401)

      Daniel R. Jacobson, Morie A. Gertz and Joel N. Buxbaum

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030414

    5. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency (pages 402–406)

      Toshinobu Matsuura, Ryuuji Hoshide, Kohji Kiwaki, Satoru Komaki, Emiko Koike, Fumio Endo, Kazuhiko Oyanagi, Yoshimi Suzuki, Ineko Kato, Kaoru Ishikawa, Hitoshi Yoda, Shigeki Kamitani, Yoshiyuki Sakaki and Ichiro Matsuda

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030415

    6. A single-base deletion mutation in a Turkish patient with fucosidosis (pages 407–408)

      Hee-Chan Seo, Jürgen Kunze, Patrick J. Willems, Alex H. Kim, Folker Hanefeld and John S. O'Brien

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030416

    7. Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa (pages 409–410)

      Mai Al-Maghtheh, Chris Inglehearn, Peter Lunt, Marcelle Jay, Alan Bird and Shomi Bhattacharya

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030417

    8. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene (pages 411–415)

      Kevin H. Laubscher, Robert H. Glew, Robert E. Lee and Richard T. Okinaka

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030418

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. A rapid restriction site screening method for the Pro207[RIGHTWARDS ARROW]Leu mutation in the lipoprotein lipase gene (pages 416–417)

      Georges Lévesque, Pierre Julien, Yves Deshaies, Paul J. Lupien and M. R. Ven Murthy

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030419

  8. Announcement

    1. Top of page
    2. Masthead
    3. Short Communication
    4. Research Articles
    5. Mutation Update
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    9. Announcement
    1. Announcement (pages 418–419)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380030420

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