Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations Anita L. DeStefanoL. Adrienne CupplesL. A. Farrer Original investigation Pages: 499 - 506
A study of females with deletions of the short arm of the X chromosome Rowena S. JamesBrian CoppinP. A. Jacobs Original investigation Pages: 507 - 516
A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region W. ThomasA. FullanRoger K. Wolff Original investigation Pages: 517 - 525
Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci M.-L. MuirasPatrick VerasdonckFrançois Schächter Original investigation Pages: 526 - 532
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation Joseph F. CubellsDaniel P. van KammenJ. Gelernter Original investigation Pages: 533 - 540
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria S. MustajokiHannele PihlajaRaili Kauppinen Original investigation Pages: 541 - 548
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families Tapan GangulyRohini DhulipalaA. Ganguly Original investigation Pages: 549 - 556
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13 K. SchröderSimone SchuffenhauerHolger Schmitt Original investigation Pages: 557 - 561
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias B. GórskiJolanta KubalskaJ. Lubiński Original investigation Pages: 562 - 565
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 Liborio StuppiaValentina GattaG. Palka Original investigation Pages: 566 - 570
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene Katie L. SwangoMübeccel DemirkolB. Wolf Original Investigation Pages: 571 - 575
Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel M. LudwigUrsula BolkeniusFrank Bidlingmaier Original Investigation Pages: 576 - 581
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator Frauke MekusManfred BallmannH. J. Veeze Original Investigation Pages: 582 - 586
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country J. M. ColléeHendrik G. de VriesLeo P. ten Kate Original Investigation Pages: 587 - 590
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay M. UpadhyayaM. RuggieriD. N. Cooper Original Investigation Pages: 591 - 597
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome I. SmythCarol WickingGeorgia Chenevix-Trench Rapid communication Pages: 598 - 601