GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation Akihiro OhtsukaIsamu YugeShin-ichi Usami Original Investigation 31 January 2003 Pages: 329 - 333
Biallelic expression of HRAS and MUCDHL in human and mouse Michael GoldbergMichelle WeiBenjamin Tycko Original Investigation 14 February 2003 Pages: 334 - 342
Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin K. MillerB. PabstM. Arslan-Kirchner Original Investigation 06 February 2003 Pages: 343 - 347
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families Norimoto KobayashiKazunaga AgematsuAtsushi Komiyama Original Investigation 19 February 2003 Pages: 348 - 352
High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis Elena BoschFrancesc CalafellMark A. Jobling Original Investigation 20 February 2003 Pages: 353 - 363
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia Ljubica CaldovicHiroki MorizonoMendel Tuchman Original Investigation 20 February 2003 Pages: 364 - 368
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity D. U. BraigA. A. SchäfferB. Grimbacher Original Investigation 06 February 2003 Pages: 369 - 378
Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria David BurgnerStanley UsenDominic P. Kwiatkowski Original Investigation 28 January 2003 Pages: 379 - 386
Skin pigmentation, biogeographical ancestry and admixture mapping Mark D. ShriverEsteban J. ParraRick A. Kittles Original Investigation 11 February 2003 Pages: 387 - 399
Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata R. Tazi-AhniniM. J. CorkA. J. G. McDonagh Original Investigation 14 February 2003 Pages: 400 - 403
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH) Jian WangRobert A. Hegele Original Investigation 06 February 2003 Pages: 404 - 408
The interleukin-6 (−174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians Barbora VozarovaJosé-Manuel Fernández-RealJohanna K. Wolford Original Investigation 14 February 2003 Pages: 409 - 413
Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22–23 Fredrik WiklundBjörn-Anders JonssonHenrik Grönberg Original Investigation 20 February 2003 Pages: 414 - 418
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease Verena RicciStefano RegisMirella Filocamo Original Investigation 11 February 2003 Pages: 419 - 425
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-FontBru CormandLluïsa Vilageliu Short Report 14 February 2003 Pages: 426 - 429
The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate Chi-Jiunn PanLi-Yuan ChenJanice Yang Chou Short Report 31 January 2003 Pages: 430 - 433
The future of association studies of common cancers Richard S. HoulstonJulian Peto Letter to the Editors 06 February 2003 Pages: 434 - 435
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. HansenPeter BrossNiels Gregersen Erratum Pages: 436 - 436
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism Kim S. BeyerFrancesca Blasi International Molecular Genetic Study of Autism Consortium (IMGSAC) Erratum Pages: 437 - 437
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 Book Review 20 February 2003 Pages: 438 - 438
Structural and molecular basis of skeletal muscle diseases Manuela C. Koch Book Review 20 February 2003 Pages: 439 - 439
