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virtual library in human genetics and molecular biology

Original Papers

1 Development and Clinical Application of an Innovative Fluorescence in situ Hybridization Technique Which Detects Submicroscopic Rearrangements Involving Telomeres
Knight, S.J.L.; Horsley, S.W.; Regan, R. (Headington, Oxford); Lawrie, N.M. (Adderbury, Banbury); Maher, E.J. (Oxford); Cardy, D.L.N. (Adderbury, Banbury); Flint, J.; Kearney, L. (Headington, Oxford)

9 Nephropathic Cystinosis (CTNS-LSB): Construction of a YAC Contig Comprising the Refined Critical Region on Chromosome 17p13
Peters, U. (Münster); Senger, G. (Jena); Rählmann, M.; Du Chesne, I. (Münster); Stec, I.; Köhler, M.R. (Würzburg); Weissenbach, J. (Evry); Leal, S.M. (Tübingen); Koch, H.G.; Deufel, T.; Harms, E. (Münster)

15 Characterisation of Five Missense Mutations in the Cystathionine Beta-Synthase Gene from Three Patients with B6-Nonresponsive Homocystinuria
Dawson, P.A.; Cox, A.J.; Emmerson, B.T. (Brisbane); Dudman, N.P.B. (Sydney); Kraus, J.P. (Denver, Colo.); Gordon, R.B. (Brisbane)

22 Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland – a Study on the 563 and 1311 Mutations of the G6PD Gene
Jablonska-Skwiecinska, E.; Zimowski, J.G.; Klopocka, J.; Bisko, M.; Hoffman-Zacharska, D.; Zaremba, J. (Warsaw)

25 Mitochondrial DNA and Y Chromosome-Specific Polymorphisms in the Seminole Tribe of Florida
Huoponen, K. (Atlanta, Ga./Oulu); Torroni, A. (Atlanta, Ga./Rome); Wickman, P.R. (Miami, Fla.); Sellitto, D. (Rome); Gurley, D.S. (Atlanta, Ga.); Scozzari, R. (Rome); Wallace, D.C. (Atlanta, Ga.)

35 Uniparental Disomy in Cartilage-Hair Hypoplasia
Sulisalo, T.; Mäkitie, O.; Sistonen, P.; Ridanpää, M.; El-Rifai, W. (Helsinki); Ruuskanen, O. (Turku); de la Chapelle, A.; Kaitila, I. (Helsinki)

43 Association of Extracolonic Manifestations of Familial Adenomatous Polyposis with Acetylation Phenotype in a Large FAP Kindred
Scott, R.J.; Taeschner, W.; Heinimann, K.; Müller, H.; Dobbie, Z. (Basel); Morgenthaler, S. (Lausanne); Hoffmann, F.; Peterli, B.; Meyer, U.A. (Basel)

50 Altered mRNA Expression due to Insertion or Substitution of Thymine at Position +3 of Two Splice-Donor Sites in the Androgen Receptor Gene
Trifiro, M.A.; Lumbroso, R.; Beitel, L.K.; Vasiliou, D.M.; Bouchard, J.; Deal, C.; Van Vliet, G.; Pinsky, L. (Montreal)

59 Announcements

European Journal of Human Genetics - Official Journal of the European Society of Human Genetics

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