TABLE OF CONTENTS
Volume 12, Issue 2 (February 2004)
Letter
Familial Mediterranean fever seems to be not uncommon in Greece FREE
Kostas Konstantopoulos and Alexandra Kanta
Eur J Hum Genet 12: 85-86; advance online publication, December 3, 2003; doi:10.1038/sj.ejhg.5201096
Articles
Prevalence of lysosomal storage diseases in Portugal FREE
Rui Pinto, Carla Caseiro, Manuela Lemos, Lurdes Lopes, Augusta Fontes, Helena Ribeiro, Eugénia Pinto, Elisabete Silva, Sónia Rocha, Ana Marcão, Isaura Ribeiro, Lúcia Lacerda, Gil Ribeiro, Olga Amaral and M C Sá Miranda
Eur J Hum Genet 12: 87-92; advance online publication, December 17, 2003; doi:10.1038/sj.ejhg.5201044
Confidentiality and serious harm in genetics – preserving the confidentiality of one patient and preventing harm to relatives FREE
Anneke Lucassen and Michael Parker
Eur J Hum Genet 12: 93-97; advance online publication, November 12, 2003; doi:10.1038/sj.ejhg.5201118
Genome-wide scanning for linkage in Finnish breast cancer families FREE
Pia Huusko, Suh-Hang Hank Juo, Elizabeth Gillanders, Laura Sarantaus, Tommi Kainu, Pia Vahteristo, Minna Allinen, MaryPat Jones, Katrin Rapakko, Hannaleena Eerola, Carol Markey, Paula Vehmanen, Derek Gildea, Diane Freas-Lutz, Carl Blomqvist, Jaakko Leisti, Guillermo Blanco, Ulla Puistola, Jeffrey Trent, Joan Bailey-Wilson, Robert Winqvist, Heli Nevanlinna and Olli-P Kallioniemi
Eur J Hum Genet 12: 98-104; advance online publication, October 15, 2003; doi:10.1038/sj.ejhg.5201091
Transmission disequilibrium test (TDT) for case–control studies FREE
Edward A Ruiz-Narváez and Hannia Campos
Eur J Hum Genet 12: 105-114; doi:10.1038/sj.ejhg.5201099
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder FREE
Jeannette Gootjes, Frank Schmohl, Hans R Waterham and Ronald J A Wanders
Eur J Hum Genet 12: 115-120; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201090
Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal FREE
Frank J Kaiser, Paola Brega, Michael L Raff, Peter H Byers, Sabina Gallati, Teresa Taylor Kay, Salomé de Almeida, Bernhard Horsthemke and Hermann-Josef Lüdecke
Eur J Hum Genet 12: 121-126; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201094
Characterisation of the dysferlin skeletal muscle promoter FREE
R M Foxton, S H Laval and K M D Bushby
Eur J Hum Genet 12: 127-131; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201092
Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case–control study FREE
Andrew J Walley, Christophe Aucan, Dominic Kwiatkowski and Adrian V S Hill
Eur J Hum Genet 12: 132-138; advance online publication, December 3, 2003; doi:10.1038/sj.ejhg.5201084
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons FREE
Dieter Kaufmann, Oliver Kenner, Peter Nurnberg, Walther Vogel and Britta Bartelt
Eur J Hum Genet 12: 139-149; advance online publication, October 29, 2003; doi:10.1038/sj.ejhg.5201098
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient FREE
Stefano Regis, Fabio Corsolini, Verena Ricci, Marco Di Duca and Mirella Filocamo
Eur J Hum Genet 12: 150-154; advance online publication, October 22, 2003; doi:10.1038/sj.ejhg.5201100
Ancient mtDNA analysis and the origin of the Guanches FREE
Nicole Maca-Meyer, Matilde Arnay, Juan Carlos Rando, Carlos Flores, Ana M González, Vicente M Cabrera and José M Larruga
Eur J Hum Genet 12: 155-162; advance online publication, September 24, 2003; doi:10.1038/sj.ejhg.5201075
Mutations responsible for 3-phosphoserine phosphatase deficiency FREE
Maria Veiga-da-Cunha, Jean-François Collet, Benoît Prieur, Jaak Jaeken, Yves Peeraer, Anja Rabbijns and Emile Van Schaftingen
Eur J Hum Genet 12: 163-166; advance online publication, December 3, 2003; doi:10.1038/sj.ejhg.5201083
