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Human Mutation|October 29, 2002
The detection of large deletions or duplications in genomic DNAJ A L Armour, D E Barton, D J Cockburn, et al.Human Mutation|October 29, 2002
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic featuresMaria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, et al.Human Mutation|October 29, 2002
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intoleranceYutaka Shoji, Atsuko Noguchi, Yasuko Shoji, et al.Human Mutation|October 29, 2002
DHPLC analysis of potassium ion channel genes in congenital long QT syndromeRoselie Jongbloed, Carlo Marcelis, Crool Velter, et al.Human Mutation|October 29, 2002
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutationsHeidi L Peters, Mikhael Nefedov, Lai Wah Lee, et al.Human Mutation|October 29, 2002
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutationsKathrin Rommel, Matthias Karck, Axel Haverich, et al.Human Mutation|March 26, 2003
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyM Lindner, R Steinfeld, P Burgard, et al.Human Mutation|March 26, 2003
Identification of six novel MSH2 and MLH1 germline mutations in HNPCCStefan Krüger, Jens Plaschke, Birgit Jeske, et al.Human Mutation|March 26, 2003
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutationsChi Hwa Kim, Hye Zin Hwang, Seng Mi Song, et al.Pageof 582