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Human Mutation|March 29, 2000
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously describedM B Lachtermacher, H N Seuánez, A B Moser, et al.Human Mutation|March 29, 2000
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvementA Morrone, T Bardelli, M A Donati, et al.Human Mutation|March 29, 2000
Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutationsM Giorgi, A Morrone, M A Donati, et al.Human Mutation|March 29, 2000
Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) geneY Akita, Y Koga, R Iwanaga, et al.Human Mutation|March 29, 2000
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish familiesR J Torres, F A Mateos, J Molano, et al.Human Mutation|March 29, 2000
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemiaK L Yip, S Y Chan, W K Ip, et al.Human Mutation|September 30, 1999
Overview of mutations in the PCCA and PCCB genes causing propionic acidemiaM Ugarte, C Pérez-Cerdá, P Rodríguez-Pombo, et al.Human Mutation|September 30, 1999
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancersN Arnold, E Gross, U Schwarz-Boeger, et al.Human Mutation|August 14, 1999
C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy populationA Todorova, A Ashikov, O Beltcheva, et al.Pageof 583