Volume 112, Issue 4, April 2003

ISSN: 0340-6717 (Print) 1432-1203 (Online)

In this issue (21 articles)

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  1. No Access

    Original Investigation

    GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

    Akihiro Ohtsuka, Isamu Yuge, Shinobu Kimura, Atsushi Namba, Satoko Abe… Pages 329-333

  2. No Access

    Original Investigation

    Biallelic expression of HRAS and MUCDHL in human and mouse

    Michael Goldberg, Michelle Wei, Luwa Yuan, Vundavalli V. Murty… Pages 334-342

  3. No Access

    Original Investigation

    Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin

    K. Miller, B. Pabst, H. Ritter, P. Nürnberg, R. Siebert, J. Schmidtke… Pages 343-347

  4. No Access

    Original Investigation

    Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families

    Norimoto Kobayashi, Kazunaga Agematsu, Kanji Sugita, Masahiro Sako… Pages 348-352

  5. No Access

    Original Investigation

    High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis

    Elena Bosch, Francesc Calafell, Zoë H. Rosser, Søren Nørby… Pages 353-363

  6. No Access

    Original Investigation

    Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia

    Ljubica Caldovic, Hiroki Morizono, Maria Gracia Panglao, Sabrina F. Cheng… Pages 364-368

  7. No Access

    Original Investigation

    Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity

    D. U. Braig, A. A. Schäffer, E. Glocker, U. Salzer, K. Warnatz… Pages 369-378

  8. No Access

    Original Investigation

    Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria

    David Burgner, Stanley Usen, Kirk Rockett, Muminatou Jallow… Pages 379-386

  9. No Access

    Original Investigation

    Skin pigmentation, biogeographical ancestry and admixture mapping

    Mark D. Shriver, Esteban J. Parra, Sonia Dios, Carolina Bonilla… Pages 387-399

  10. No Access

    Original Investigation

    Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata

    R. Tazi-Ahnini, M. J. Cork, D. Wengraf, A. G. Wilson, D. J. Gawkrodger… Pages 400-403

  11. No Access

    Original Investigation

    Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH)

    Jian Wang, Robert A. Hegele Pages 404-408

  12. No Access

    Original Investigation

    The interleukin-6 (−174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians

    Barbora Vozarova, José-Manuel Fernández-Real, William C. Knowler… Pages 409-413

  13. No Access

    Original Investigation

    Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22–23

    Fredrik Wiklund, Björn-Anders Jonsson, Ingela Göransson, Anders Bergh… Pages 414-418

  14. No Access

    Original Investigation

    An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

    Verena Ricci, Stefano Regis, Marco Di Duca, Mirella Filocamo Pages 419-425

  15. No Access

    Short Report

    Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients

    Anna Díaz-Font, Bru Cormand, Mariana Blanco, Néstor Chamoles… Pages 426-429

  16. No Access

    Short Report

    The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate

    Chi-Jiunn Pan, Li-Yuan Chen, Brian C. Mansfield, Barbara Salani… Pages 430-433

  17. No Access

    Letter to the Editors

    The future of association studies of common cancers

    Richard S. Houlston, Julian Peto Pages 434-435

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    Erratum

    Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter

    Jens J. Hansen, Peter Bross, Majken Westergaard, Marit Nielsen… Page 436

  19. No Access

    Erratum

    Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

    Kim S. Beyer, Francesca Blasi, Elena Bacchelli, Sabine M. Klauck… Page 437

  20. No Access

    Book Review

    C.W.R.J. Cremers, R.J.H. Smith (eds): Genetic hearing impairment—it's clinical presentations. Advances in Oto-Rhino-Laryngology, Vol 61 (Series ed: W. Arnold)

    William Reardon Page 438
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