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Human Mutation|September 30, 1999
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 diseaseE Bellone, E Di Maria, S Soriani, et al.Human Mutation|March 29, 2000
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance familiesA Noguchi, Y Shoji, A Koizumi, et al.Human Mutation|March 29, 2000
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCRJ Purroy, L Bisceglia, J Jaeken, et al.Human Mutation|March 29, 2000
Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1P K Nogueira, T S Vuong, O Bouton, et al.Human Mutation|March 29, 2000
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndromeS Russo, F Cogliati, M Viri, et al.Human Mutation|March 29, 2000
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518XJ Wei, F A Fish, R J Myerburg, et al.Human Mutation|March 29, 2000
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 familiesA Adato, M D Weston, A Berry, et al.Human Mutation|September 8, 1999
Protein misfolding and degradation in genetic diseasesP Bross, T J Corydon, B S Andresen, et al.Human Mutation|September 8, 1999
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5S E Mole, H M Mitchison, P B MunroeHuman Mutation|September 8, 1999
A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystoniaP A Slominsky, E D Markova, M I Shadrina, et al.Pageof 583