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  European Journal of Human Genetics: Vol. 4, No. 3, 1996 (May-June)  
  May 01, 1996

virtual library in human genetics and molecular biology

 
     
G. J. B. van Ommen, Leiden


S. Karger AG, Basel
  Date of publishing: May, 1996  
 


Original Papers

127 Analysis of Alternative Splicing Patterns in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using mRNA Derived from Lymphoblastoid Cells of Cystic Fibrosis Patients
Bienvenu, T.; Beldjord, C.; Chelly, J.; Fonknechten, N.; Hubert, D.; Dusser, D.; Kaplan, J.C. (Paris)

135 Integration of 30 CA-Repeat Markers into the Cytogenetic, Genetic and YAC Maps of Human Chromosome 21
Bosch, A.; Guimerà, J.; Graw, S.; Gardiner, K.; Chumakov, I.; Patterson, D.; Estivill, X. (Barcelona/Denver, Colo./Paris)

143 Four Novel Dystrophin Point Mutations: Detection by Protein Truncation Test and Transcript Analysis in Lymphocytes from Duchenne Muscular Dystrophy Patients
Tuffery, S.; Bareil, C.; Demaille, J.; Claustres, M. (Montpellier)

153 Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty
Tomkins, D.J.; Roux, A.-F.; Waye, J.; Freeman, V.C.P.; Cox, D.W.; Whelan, D.T. (Hamilton/Toronto)

160 Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation
Bugge, M.; Blennow, E.; Friedrich, U.; Petersen, M.B.; Pedeutour, F.; Tsezou, A.; Ørum, A.; Hermann, S.; Lyngbye, T.; Sarri, C.; Avramopoulos, D.; Kitsiou, S.; Lambert, J.C.; Guzda, M.; Tommerup, N.; Brøndum-Nielsen, K. (Glostrup/Stockholm/Aarhus/Søborg/Gentofte/Athens/Nice)

168 Isochromosome 18p Results from Maternal Meiosis II Nondisjunction
Kotzot, D.; Bundscherer, G.; Bernasconi, F.; Brecevic, L.; Lurie, I.W.; Basaran, S.; Baccicchetti, C.; Höller, A.; Castellan, C.; Braun-Quentin, C.; Pfeiffer, R.A.; Schinzel, A. (Zürich/Erlangen/Minsk/Istanbul/Padua/Bozen)

175 Population Genetic Comparisons among Eight Populations using Allele Frequency and Sequence Data from Three Microsatellite Loci
Brinkmann, B.; Sajantila, A.; Goedde, H.W.; Matsumoto, H.; Nishi, K.; Wiegand, P. (Münster/Munich/Helsinki/Hamburg/Osaka/Shiga)

Short Report

183 Seven Novel Additional Small Mutations and a New Alternative Splicing in the Human Dystrophin Gene Detected by Heteroduplex Analysis and Restricted RT-PCR Heteroduplex Analysis of Illegitimate Transcripts
Barbieri, A.M.; Soriani, N.; Ferlini, A.; Michelato, A.; Ferrari, M.; Carrera, P. (Milan/London/Modena/Bergamo)

Software Review

188 A New Version of Cyrillic: Overview
Fann, C.S.J.; Brancolini, V. (New York, N.Y.)

189 Announcements


S. KARGER AG, BASEL

Medical and Scientific Publishers
 
     
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