Human Mutation

Cover image for Human Mutation

1993

Volume 2, Issue 4

Pages fmi–fmi, 245–330

  1. Masthead

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020401

  2. Special Features

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. A suggested nomenclature for designating mutations (pages 245–248)

      Arthur L. Beaudet and Lap-Chee Tsui

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020402

  3. Mutation Updates

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Rhodopsin mutations in autosomal dominant retinitis pigmentosa (pages 249–255)

      Mai Al-Maghtheh, Cheryl Gregory, Chris Inglehearn, Alison Hardcastle and Shomi Bhattacharya

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020403

  4. Research Articles

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg (pages 256–260)

      Michail Ju. Mandelshtam, Boris M. Lipovetskyi, Alexandr L. Schwartzman and Vladimir S. Gaitskhoki

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020404

    2. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy (pages 261–267)

      John S. Harvey, Paul V. Nelson, William F. Carey, Evelyn F. Robertson and C. Phillip Morris

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020405

    3. Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II (pages 268–273)

      Monique M. P. Hermans, Marian A. Kroos, Esther De Graaff, Ben A. Oostra and Arnold J. J. Reuser

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020406

    4. Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE) (pages 274–285)

      Birgitte Smith-Sørensen, Mark C. Gebhardt, Peter Kloen, Jim McIntyre, Fernando Aguilar, Peter Cerutti and Anne-Lise Børresen

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020407

    5. Infidelity in the structure of ectopic transcripts: A novel exon in lymphocyte dystrophin transcripts (pages 293–299)

      Roland G. Roberts, David R. Bentley and Martin Bobrow

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020409

  5. Methods

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island (pages 306–308)

      T. Bienvenu, S. Bousquet, C. Herbulot, F. Cartault, J.-C. Kaplan and C. Beldjord

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020411

  6. Mutation in Briefs

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. A novel nonsense mutation in the human dystrophin gene (pages 314–316)

      F. A. Saad, G. Vita, M. Mora, L. Morandi, L. Vitiello, S. Oliviero and G. A. Danieli

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020413

    2. Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050–54) unusual for not being missense mutations (pages 320–323)

      R. Hirschhorn, A. S. Chen, A. Israni, D. R. Yang and M. L. Huie

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020415

    3. Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis (pages 324–326)

      D. S. Millar, A. Lopez, D. White, G. Abraham, B. Laursen, S. Holding, J. C. Reverter, J. Reynaud, U. Martinowitz, J. P. L. A. Hayes, V. V. Kakkar and D. N. Cooper

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020416

    4. A new δ-chain variant hemoglobin A2-puglia or α2δ2 26 Glu[RIGHTWARDS ARROW]Asp (B8), detected by DNA analysis in a family of Southern Italian origin (pages 327–329)

      Georgios Loudianos, Susanna Porcu, Patrizia Cossu, Nunzia Tannoia, Angelantonio Vitucci, Daniela Campanale, Antonio Cao and Mario Pirastu

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020417

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Special Features
    4. Mutation Updates
    5. Research Articles
    6. Methods
    7. Mutation in Briefs
    8. Letter to the Editors
    1. No C1840 to T mutation in RYR1 in malignant hyperthermia (page 330)

      Julie L. Hall-Curran, Alistair D. Stewart, Sarah P. Ball, Jane P. Halsall, Philip M. Hopkins and F. Richard Ellis

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.1380020418

SEARCH

SEARCH BY CITATION