Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features Tsutomu OgataNobutake Matsuo Original Investigation Pages: 607 - 629
Molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in three Taiwan aboriginal tribes Tang K. TangWen-Yi HuangKung-Ho Chen Original Investigation Pages: 630 - 632
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization Maria Julia CalongeMarga NadalVirginia Nunes Original Investigation Pages: 633 - 636
Coverage of chromosome 6 by chromosome microdissection: generation of 14 subregion-specific probes Xin-Yuan GuanPaul S. MeltzerJeffrey M. Trent Original Investigation Pages: 637 - 640
Apoptosis regulatory gene NEDD2 maps to human chromosome segment 7q34–35, a region frequently affected in haematological neoplasms Sharad KumarDeborah L. WhiteTimothy P. Hughes Original Investigation Pages: 641 - 644
Genetic heterogeneity of polycystic kidney disease in Bulgaria N. BogdanovaB. DworniczakL. Kalaydjieva Original Investigation Pages: 645 - 650
Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient Paul R. HobanJim HeighwayAnna M. Kelsey Original Investigation Pages: 651 - 656
Intricate combinatorial patterns of exon splicing generate multiple Rh-related isoforms in human erythroid cells Eiji KajiiFuminori UmenishiShigenori Ikemoto Original Investigation Pages: 657 - 665
Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862→Ser substitution in a type I collagen gene (COL1A1) Chisato NamikawaKaoru SozumoriAkira Hata Original Investigation Pages: 666 - 670
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia Trond P. LerenHilde SundvoldKåre Berg Original Investigation Pages: 671 - 676
Linkage mapping of serotonin transporter protein gene SLC6A4 on chromosome 17 J. GelernterA. J. PakstisK. K. Kidd Original Investigation Pages: 677 - 680
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC Reinhard SchneppenheimKathy B. ThomasBarbara Zieger Original Investigation Pages: 681 - 686
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family F. A. HolB. C. J. HamelE. C. M. Mariman Original Investigation Pages: 687 - 690
Identification of a PIG-A related processed gene on chromosome 12 Shanmugam NagarajanCarolyn J. BrownM. Edward Medof Original Investigation Pages: 691 - 697
Three novel sequence variations in the 5′ upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect Thierry BienvenuVirginie LacroniqueCherif Beldjord Original Investigation Pages: 698 - 702
High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study Marianne SchwartzNicolina SørensenTurid Holm Original Investigation Pages: 703 - 706
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene Toshihiro OhuraKuniaki NariwasaKazuie Iisnuma Short Communication Pages: 707 - 708
Redefinition of the coding sequence of the MXI1 gene and identification of a polymorphic repeat in the 3′ non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas Ruth AlbarosaStefano DiDonatoGaetano Finocchiaro Short Communication Pages: 709 - 711
Highly polymorphic dinucleotide repeat at the NF2 gene David BournTom Strachan OriginalPaper Pages: 712 - 712
An intragenic deletion in the human PTPN6 gene affects transcriptional activity M. NehlsM. SchorppT. Boehm OriginalPaper Pages: 713 - 715
Frequent sequence variant in the human tyrosine hydroxylase gene Barbara LüdeckeKlaus Bartholomé OriginalPaper Pages: 716 - 716
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations Hiroyuki IdaKyoko IwasawaYoshikatsu Eto OriginalPaper Pages: 717 - 720
Highly polymorphic sequence at D21S1448 mapping close to D21S55, within the Down syndrome critical region D. HernandezA. A. J. PannettE. M. C. Fisher OriginalPaper Pages: 721 - 722
A trinucleotide repeat combination polymorphism in the cardiac alpha myosin heavy chain (MYH6) gene Marcel H. van den BergHenk MeijerJoep P. M. Geraedts OriginalPaper Pages: 723 - 724
