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Human Mutation|April 24, 1999
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J CollHuman Mutation|March 27, 1999
Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)K L Dry, F D Manson, A Lennon, et al.Human Mutation|March 27, 1999
A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. OnlineA L Sertié, C Brahe, M R Passos-BuenoHuman Mutation|March 27, 1999
A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones. Mutations in brief no. 219. OnlineR K Dang, R S Anthony, J I Craig, et al.Human Mutation|March 27, 1999
Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement. Mutations in brief no. 221. OnlineL Picci, M Cameran, P Olante, et al.Human Mutation|March 27, 1999
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. OnlineC Dubourg, S Odent, P Fergelot, et al.Human Mutation|April 17, 1999
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. OnlineK J Norrgard, R J Pomponio, K L Swango, et al.Human Mutation|April 17, 1999
Novel allele of the insulin receptor substrate-1 bearing two non-conservative amino acid substitutions in a patient with noninsulin-dependent diabetes mellitus. Mutations in brief no. 130. OnlineS Mammarella, B Creati, D L Esposito, et al.Human Mutation|January 1, 1995
Molecular characterization of galactosemia (type 1) mutations in JapaneseJ Ashino, Y Okano, I Suyama, et al.Human Mutation|January 1, 1995
Three novel aniridia mutations in the human PAX6 geneA Martha, L C Strong, R E Ferrell, et al.Pageof 574