Human Mutation

Cover image for Human Mutation

1992

Volume 1, Issue 4

Pages fmi–fmi, 271–346

  1. Masthead

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Brief
    1. Masthead (page fmi)

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010401

  2. Mutation Update

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Brief
    1. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene (pages 271–279)

      K. Tanaka, I. Yokota, P. M. Coates, A. W. Strauss, D. P. Kelly, Z. Zhang, N. Gregersen, B. S. Andresen, Y. Matsubara, D. Curtis and Y.-T. Chen

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010402

  3. Research Articles

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Brief
    1. Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene (pages 280–287)

      Katrin Baldrich, Marco Baldrich, Anthony P. Monaco and Clemens R. Müller

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010403

    2. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries (pages 288–292)

      Peiyi Y. Hu, Donna E. Roth, Laura A. Skaggs, Patrick J. Venta, Richard E. Tashian, Pierre Guibaud and William S. Sly

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010404

    3. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy (pages 293–297)

      James K. Park, James J. O'Donnell, Vivian E. Shih, James F. Gusella and Vijaya Ramesh

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010405

    4. Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch (pages 298–302)

      Emilie H. Mules, Susan Hayflick, Carol E. Dowling, Thaddeus E. Kelly, Beverly R. Akerman, Roy A. Gravel and George H. Thomas

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010406

    5. A mutation common in non-jewish Tay–Sachs disease: Frequency and RNA studies (pages 303–309)

      B. R. Akerman, J. Zielenski, B. L. Triggs-Raine, E. M. Prence, M. R. Natowicz, J. S. T. Lim-Steele, M. M. Kaback, E. H. Mules, G. H. Thomas, J. T. R. Clarke and R. A. Gravel

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010407

    6. Screening for cystic fibrosis mutations in Southern France: Identification of a frameshift mutation and two missense variations (pages 310–313)

      Mireille Claustres, Bernard Gerrard, Paule Kjellberg, Marie Desgeorges, Jacques Demaille and Michael Dean

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010408

    7. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes (pages 314–319)

      Laura Cremonesi, Maurizio Ferrari, Elena Belloni, Carmelina Magnani, Manuela Seia, Patrizia Ronchetto, Magdy Rady, Maria Pia Russo, Giovanni Romeo and Marcella Devoto

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010409

    8. Human hepatic lipase mutations and polymorphisms (pages 320–324)

      Robert A. Hegele, Liling Tu and Philip W. Connelly

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010410

    9. Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method (pages 325–332)

      N. Loux, B. Saint-Jore, G. Collod, F. Dairou, P. Benlian, J. Truffert, B. Dastugue, P. Douste-Blazy, J. L. de Gennes, C. Junien and C. Boileau

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010411

    10. α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype (pages 333–339)

      Hamish S. Scott, Tom Litjens, Paul V. Nelson, Doug A. Brooks, John J. Hopwood and C. Phillip Morris

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010412

    11. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs (pages 340–343)

      Sandra Kleiman, Jeanna Bernstein, Gerard Schwartz, Randy C. Eisensmith, Savio L. C. Woo and Yosef Shiloh

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010413

  4. Mutation in Brief

    1. Top of page
    2. Masthead
    3. Mutation Update
    4. Research Articles
    5. Mutation in Brief
    1. A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family (pages 344–346)

      Sandra Kleiman, Gerard Schwartz, Savio L. C. Woo and Yosef Shiloh

      Version of Record online: 1 JUN 2005 | DOI: 10.1002/humu.1380010414

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