Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens Jih-Tung PaiShih-Feng TsaiKuang-Dong Wuu Original Investigations Pages: 488 - 493
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis Christina BraheIsabella VelonàGiovanni Neri Original Investigations Pages: 494 - 501
Numerical chromosome abnormalities in spermatozoa of fertile and infertile men detected by fluorescence in situ hybridization Norio MiharuRobert G. BestS. Robert Young Original Investigations Pages: 502 - 506
Evidence against DNA polymerase β as a candidate gene for Werner syndrome Ming ChangGlenna C. BurmerGeorge M. Martin Original Investigations Pages: 507 - 512
The CL100 gene, which encodes a dual specificity (Tyr/Thr) MAP kinase phosphatase, is highly conserved and maps to human chromosome 5q34 E. A. EmslieT. A. JonesS. M. Keyse Original Investigations Pages: 513 - 516
Immumoglobulin allotypes in Ecuadorian Cayapa Indians Michael A. KronLaura GatelyJose Rumbea Guzman Original Investigations Pages: 517 - 519
Molecular analysis of the T17 immunoglobulin CH multigene deletion (del A1-GP-G2-G4-E) Victor WiebeAhmed HelalGérard Lefranc Original Investigations Pages: 520 - 528
Novel cystic fibrosis mutation associated with mild disease in Cypriot patients Kalina BotevaElena PapageorgiouC. D. Constantinou-Deltas Original Investigations Pages: 529 - 532
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation Makoto DaimonKeiichi YamataniHideo Sasaki Original Investigations Pages: 533 - 537
A new missense mutation (Cys297→Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste) N. LelliR. GarutiS. Calandra Original Investigations Pages: 538 - 540
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy David J. BunyanDavid O. RobinsonPaul A. Whittaker Original Investigations Pages: 541 - 544
Ancestry of SINE-R.C2 a human-specific retroposon Zeng-Bian ZhuBixi JianJohn E. Volanakis Original Investigations Pages: 545 - 551
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria William E. SchreiberFenton FongAzim Jamani Original Investigations Pages: 552 - 556
A region-specific microdissection library for human chromosome 2p23–p25 and the analysis of an interstitial deletion of 2p23.3–p25.1 Jingwei YuJianxin QiFa-Ten Kao Original Investigations Pages: 557 - 562
Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter Frédérique TihyNicolas VogtNicole Lemieux Original Investigations Pages: 563 - 567
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism Sara J. GiordanoAvinoam KaftoryAlan W. Steggles Original Investigations Pages: 568 - 570
TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation of the alpha-1-antitrypsin gene Anke HinneyChristine DürrHorst Ritter Original Investigations Pages: 571 - 574
The human vigilin gene: identification, chromosomal localization and expression pattern Gabriele PlenzSebastian KüglerPeter K. Müller Original Investigations Pages: 575 - 582
Fanconi anemia cells have a normal gene structure for topoisomerase I Hiroshi SaitoMarkus GrompeRobb E. Moses Original Investigations Pages: 583 - 586
Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint Michèle CheryValérie BiancalanaAndré Hanauer Original Investigations Pages: 587 - 591
Selected di- and tetranucleotide microsatellites from chromosomes 7, 12, 14, and Y in various Eurasian populations Maria GomolkaJoachim HundrieserCornelia Epplen Short Communications Pages: 592 - 596
A Gln-281 to Arg substitution in α-l-fucosidase is responsible for a common polymorphism detected by isoelectric focusing Meiheng YangRichard A. DiCioccio Short Communications Pages: 597 - 599
Chromosomal localization of genes required for the terminal steps of oxidative metabolism: α and γ subunits of ATP synthase and the phosphate carrier Ethylin Wang JabsPhilip J. ThomasPeter L. Pedersen Short Communications Pages: 600 - 602
A chimaeric animal model for confined placental mosaicism Roberta M. JamesJohn D. West Short Communications Pages: 603 - 604
A Japanese patient with the Costello syndrome Nobuhiko OkamotoHide-aki ChiyoYasuyuki Futagi Clinical Case Report Pages: 605 - 606
Identification of a polymorphism in intron 2 of the p53 gene Lisa M. PleasantsMarc F. Hansen DNA Variants Pages: 607 - 608
Identification of three RFLPs at the HCK locus on chromosome 20 Peter E. HollingsMary J. MorrisonPeter E. Crossen DNA Variants Pages: 609 - 610
A transcribed polymorphism and sub-localisation of MDM2 Jim HeighwayErika L. D. MitchellMauro F. Santibáñez Koref DNA Variants Pages: 611 - 612
For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns Toshinobu MatsuuraRyuuji HoshideIchiro Matsuda Errata Pages: 613 - 613
Spectrin αIIa variant in dominant and non-dominant spherocytosis P. BoivinC. GalandD. Dhermy Errata Pages: 614 - 614