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virtual library in human genetics and molecular biology

Editorial
Human Genetics, a Prediction
van Ommen, G.-J.B. (Leiden)
pp 1

Original Papers
Machado-Joseph Disease: Correlation between the Clinical Features, the CAG Repeat Length and Homozygosity for the Mutation
Lerer, I.; Merims, D.; Abeliovich, D.; Zlotogora, J.; Gadoth, N. (Jerusalem/Tel Aviv)
pp 3

Unexpected Inheritance of the (CGG)n Trinucleotide Expansion in a Fragile X Syndrome Family
Malzac, P.; Biancalana, V.; Voelckel, M.A.; Moncla, A.; Pellissier, M.C.; Boccaccio, I.; Mattei, J.F. (Marseille/Strasbourg)
pp 8

Mutations in the Human Mannose-Binding Protein Gene: Frequencies in Several Population Groups
Lipscombe, R.J.; Beatty, D.W.; Ganczakowski, M.; Goddard, E.A.; Jenkins, T.; Lau, Y.L.; Spurdle, A.B.; Sumiya, M.; Summerfield, J.A.; Turner, M.W. (London/Cape Town/Oxford/Johannesburg/Hong Kong)
pp 13

Distribution of CFTR Mutations in Cystic Fibrosis Patients of Tunisian Origin: Identification of Two Novel Mutations
Messaoud, T.; Verlingue, C.; Denamur, E.; Pascaud, O.; QuThetarTheta, I.; Fattoum, S.; Elion, J.; FThetarec, C. (Tunis/Brest/Paris)
pp 20

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
Nelis, E.; Van Broeckhoven, C., and coauthors (Antwerp)
pp 25

Refined Genetic and Physical Mapping of BPES Type II
Messiaen, L.; Leroy, B.P.; De Bie, S.; De Pauw, K.; Van Roy, N.; Speleman, F.; Van Camp, G.; De Paepe, A. (Gent/Antwerp)
pp 34

Gly802Asp Substitution in the proa2(I) Collagen Chain in a Family with Recurrent Osteogenesis imperfecta due to Paternal Mosaicism
Lund, A.M.; Schwartz, M.; Raghunath, M.; Steinmann, B.; Skovby, F. (Copenhagen/Zurich)
pp 39

Non-Syndromic Deafness Associated with a Mutation and a Polymorphism in the Mitochondrial 12S Ribosomal RNA Gene in a Large Zairean Pedigree
Matthijs, G.; Claes, S.; Longo-Mbenza, B.; Cassiman, J.-J. (Leuven/Kinshasa)
pp 46

AdolescentsAE Attitude towards Carrier Testing for Cystic Fibrosis and Its Relative Stability over Time
Welkenhuysen, M.; Evers-Kiebooms, G.; Decruyenaere, M.; Van den Berghe, H.; Bande-Knops, J.; Van Gerven, V. (Leuven)
pp 52

Announcements
pp 63

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