Molecular basis of group A xeroderma pigmentosum: A missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene Ichiro SatokataKiyoji TanakaYoshio Okada Original Investigations Pages: 603 - 607
PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics Hans Geir EikenKarin StangelandJaran Apold Original Investigations Pages: 608 - 612
Genetic structures in the Po Delta: Principal components, systemic functions and the relative age of the beta-thalassemia polymorphism I. BarraiM. BerettaA. Ravani Original Investigations Pages: 613 - 618
Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome Y. ZivM. FrydmanY. Shiloh Original Investigations Pages: 619 - 626
The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: Exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele A. C. NichollsJ. OliverF. M. Pope Original Investigations Pages: 627 - 633
Human triosephosphate isomerase: Substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester B. A. PerryH. W. Mohrenweiser Original Investigations Pages: 634 - 638
Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis F. SantamariaD. SalvatoreG. Sebastio Original Investigations Pages: 639 - 641
Spontaneous abortion and confined chromosomal mosaicism Dagmar K. KalousekIrene J. BarretteAntia B. Gärtner Original Investigations Pages: 642 - 646
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency Phyllis W. SpeisereMaria I. NewPerrin C. White Original Investigations Pages: 647 - 648
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the Elα subunit Linda De MeirleirWilly LissensInge Liebaers Original Investigations Pages: 649 - 652
Assignment of the gene encoding the catalytic subunit Cβ of CAMP-dependent protein kinase to the p36 band on chromosome Jacques SimardDominique BérubéTore Jahnsen Original Investigations Pages: 653 - 657
Detection by DGGE of a new polymorphism closely linked to the adenomatous polyposis coli region Sylviane OlschwangRichard FabreGilles Thomas Original Investigations Pages: 658 - 660
Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome J. O. Van HemelB. EussenB. A. Oostra Original Investigations Pages: 661 - 667
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2 Z. TümerN. TommerupN. Horn Original Investigations Pages: 668 - 672
Characterization of centromere arrangements and test for random distribution in G0, G1, S, G2, G1, and early S′ phase in human lymphocytes R. WeimerT. HaafM. Schmid Original Investigations Pages: 673 - 682
X-linked retinitis pigmentosa: New map studies of XLRP2, and a possible human centromere effect Ursula FriedrichMette WarburgSten Andréasson Original Investigations Pages: 683 - 687
Molecular heterogeneity underlying the G6PD Mediterranean phenotype C. M. CorcoranV. CalabròL. Luzzatto Short Communications Pages: 688 - 690
Physical mapping of an Xq-proximal interstitial duplication in a male F. MuscatelliJ. M. VernaM. Fontes Short Communications Pages: 691 - 694
The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction Therese LightfootRahul JoshiFloyd F. Snyder Short Communications Pages: 695 - 696
Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction G. NovelliM. GennarelliB. Dallapiccola Short Communications Pages: 697 - 698
Frequency of the ΔF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients Branka Brukner DabovićDragica RadojkovićAna Savić Short Communications Pages: 699 - 700
Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele Hamish S. ScottPaul V. NelsonC. Phillip Morris Short Communications Pages: 701 - 702
Regional chromosomal assignment of genes encoding the α and β subunits of human complement protein C8 to 1p32 A. TheriaultE. BoydJ. M. Connor Short Communications Pages: 703 - 704
Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion Cornelia KrausWolfgang G. Ballhausen DNA Variants Pages: 705 - 706
A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis Catherine B. GrundySteven HoldingDavid N. Cooper DNA Variants Pages: 707 - 708
PGD Port Elizabeth: A new variant found in South Africa T. SchlaphoffS. WeidingerE. D. du Toit DNA Variants Pages: 709 - 709
PCR assay for a polymorphicDdeI site in the promoter region of the human cystatin C gene Milagros BalbínMagnus Abrahamson DNA Variants Pages: 710 - 710
A 20-year-old male with partial trisomy 18q —as diagnosed by in situ hybridization C. H. GravholtU. FriedrichJ. Nielsen Letter to the Editors Pages: 711 - 712
