On genetic components in autoimmunity: a critical review based on evolutionarily oriented rationality Jörg T. Epplen Review Article Pages: 331 - 341
A 47,XXY female with unusual genitalia M. SchmidM. GuttenbachV. Terruhn Original Investigations Pages: 346 - 349
A familial mutation in the testis-determining gene SRY shared by both sexes Ralf J. JägerVincent R. HarleyGerd Scherer Original Investigations Pages: 350 - 355
Analysis of segregation and expression of an identified mutation at the neuroflbromatosis type 1 locus Markus StarkGünter AssumWinfrid Krone Original Investigations Pages: 356 - 359
Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood Diana W. BianchiAnna MahrKatherine W. Klinger Original Investigations Pages: 368 - 370
Complete characterization of a large marker chromosome by reverse and forward chromosome painting Elisabeth BlennowHåkan TeleniusMagnus Nordenskjöld Original Investigations Pages: 371 - 374
Non-radioactive detection of the most common mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex allele-specific polymerase chain reaction Paolo FortinaRebecca ConantSaul Surrey Original Investigations Pages: 375 - 378
Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency Yasukazu YamadaHaruko GotoNobuaki Ogasawara Original Investigations Pages: 379 - 384
A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease Shin FujimoriTetsuo TagayaIeo Akaoka Original Investigations Pages: 385 - 388
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family Danièle Carré-EusèbeSandrine ImbeaudJean-Yves Picard Original Investigations Pages: 389 - 394
Alcohol dehydrogenase genes: restriction fragment length polymorphisms for ADH4 (π-ADH) and ADH5 (χ-ADH) and construction of haplotypes among different ADH classes Kjell EdmanWolfgang Maret Original Investigations Pages: 395 - 401
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada Peter HechtmanBernard BoulayFeige Kaplan Original Investigations Pages: 402 - 406
Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene D. J. CockburnE. A. MunroY. Boyd Original Investigations Pages: 407 - 412
Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1) Michael J. AldredPeter J. M. CrawfordNicholas S. T. Thomas Original Investigations Pages: 413 - 416
Molecular characterization of β-thalassemia in Azerbaijan M. Akif CürükGünes T. YüregirTitus H. J. Huisman Original Investigations Pages: 417 - 419
Alport syndrome: a genetic study of 31 families Rhida M'RadMarek SanakMarie-Claude Hors-Cayla Original Investigations Pages: 420 - 426
New chromosome 21 DNA markers isolated by pulsed field gel electrophoresis from an ETS2-containing Down syndrome chromosomal region Marie-Laure YaspoNathalie CrétéJean-Maurice Delabar Original Investigations Pages: 427 - 434
Chromosomal assignment and linkage analysis of the human glutathione S-transferase μ gene (GSTM1) using intron specific polymerase chain reaction Shan ZhongC. Roland WolfNigel K. Spurr Original Investigations Pages: 435 - 439
A single base pair polymorphism in the WT1 gene detected by single-strand conformation polymorphism analysis Natalie GrovesPaul N. BairdJohn K. Cowell Original Investigations Pages: 440 - 442
Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassaemia on the Indian subcontinent Nermeen Y. VarawallaAlison C. FitchesJohn M. Old Original Investigations Pages: 443 - 449
Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line Jennifer E. ReynoldsJonathan A. FletcherScott R. Diehl Original Investigations Pages: 450 - 456
Genetic studies of antithrombin III with IEF and ASO hybridization C. DürrA. HinneyH. Ritter Short Communications Pages: 457 - 459
A very conservative region of ApoB-100 in the putative binding region to the LDL receptor in the Toulouse population Philippe AvoustinHoma MostachiClaude de Préval Short Communications Pages: 460 - 463
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-ΔF508 chromosomes in Southern France Mireille ClaustresMarie DesgeorgesJacques Demaille Short Communications Pages: 464 - 466
α-1-Antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing Michio TsudaYukari SeiMasaichi Yamamura Short Communications Pages: 467 - 468
Aplasia cutis congenita reminiscent of the lines of Blaschko Raoul C. M. Hennekam Clinical Case Report Pages: 469 - 471
A novel missense mutation in the antithrombin III gene (Ala387→Val) causing recurrent venous thrombosis Deborah WhiteGinger AbrahamDavid N. Cooper OriginalPaper Pages: 472 - 473
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene M. ChillónA. PalacioX. Estivill OriginalPaper Pages: 474 - 474
