Transglutaminase activity is related to CAG repeat length in patients with Huntington’s disease L. CarielloT. de CristofaroS. Varrone Original investigation Pages: 633 - 635
Absence of association between the Gly40→Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance M. OdawaraYoichi TachiKamejiro Yamashita Original investigation Pages: 636 - 639
Wilson disease mutations associated with uncommon haplotypes in mediterranean patients G. LoudianosValeria DessìMario Pirastu Original investigation Pages: 640 - 642
Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene R. MatsumuraTetsuya TakayanagiSatoshi Ueno Original investigation Pages: 643 - 645
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome Paola RivaPierangela CastorinaL. Larizza Original investigation Pages: 646 - 650
Evidence of somatic mutations in osteoarthritis F. MertensE. PålssonNils Mandahl Original investigation Pages: 651 - 656
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia Antonio RossiHans J. van der HartenA. Superti-Furga Original investigation Pages: 657 - 661
Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency P. CarreraLaura BordoneMaurizio Ferrari Original investigation Pages: 662 - 665
Isolation and characterization of the full-length 3′ untranslated region of the human von Hippel-Lindau tumor suppressor gene P. RenbaumFuh-Mei DuhIgor Kuzmin Original investigation Pages: 666 - 671
Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3 Haiming ChenConstantin BourasStylianos E. Antonarakis Original investigation Pages: 672 - 677
The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity C. R. PullingerJanette A. LoveJohn P. Kane Original investigation Pages: 678 - 680
Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1) Z. SmolenickaD. GueriniS. Liechti-Gallati Original investigation Pages: 681 - 684
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome Wenda L. GreerAmro ShehabeldinK. A. Siminovitch Original investigation Pages: 685 - 690
Molecular studies in three patients with isodicentric Y chromosome Liborio StuppiaGiuseppe CalabreseGiandomenico Palka Original investigation Pages: 691 - 695
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients C. LázaroAntonia GaonaXavier Estivill Original investigation Pages: 696 - 699
A novel mutation of presenilin 1 in familial Alzheimer’s disease in Israel detected by denaturing gradient gel electrophoresis Haike Reznik-WolfTherese A. TrevesE. Friedman Original investigation Pages: 700 - 702
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism Salmo RaskinJ. D. CoganJ. A. Phillips III. Original investigation Pages: 703 - 705
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient U. PannickePeter TuchschmidKlaus Schwarz Original investigation Pages: 706 - 709
Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients B. J. TraskHeather MeffordP. I. Patel Original investigation Pages: 710 - 718
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease Dominique GermainM. BiasottoLivia Poenaru Original investigation Pages: 719 - 726
Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli R. B. van der LuijtP. Meera KhanRiccardo Fodde Original investigation Pages: 727 - 734
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis A. VerripsGerry C. H. Steenbergen-SpanjersRon A. Wevers Original investigation Pages: 735 - 737
Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35–p34, 17q12–q21, 11q24–q25 and 12q24 M. MontagnaOlga SerovaGilbert M. Lenoir Original investigation Pages: 738 - 740
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285 Su-Ying XuMichael DentonA. Gal Rapid communication Pages: 741 - 743
Association between the PI*M3 allele of α1-antitrypsin and Alzheimer’s disease? A preliminary report A. KowalskaHeidi Danker-HopfeHubert Walter Rapid communication Pages: 744 - 746
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Roland KruseChristof LambertiPeter Propping Rapid communication Pages: 747 - 750