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Human Mutation|August 14, 1999
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophyJ E Cleaver, L H Thompson, A S Richardson, et al.Human Mutation|August 14, 1999
Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinismB Glaser, J Furth, C A Stanley, et al.Human Mutation|August 14, 1999
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. OnlineR Haas, B Gutierrez-Rivero, J Knoche, et al.Human Mutation|August 14, 1999
Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. OnlineJ J Tellería, M J Alonso, C Calvo, et al.Human Mutation|August 14, 1999
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. OnlineS Muro, P Rodríguez-Pombo, B Pérez, et al.Human Mutation|September 30, 1999
Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylationT Bianco, D Hussey, A DobrovicHuman Mutation|September 30, 1999
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effectG Loudianos, V Dessi, M Lovicu, et al.Human Mutation|September 30, 1999
Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesisS Banerjee-Basu, A D BaxevanisHuman Mutation|September 30, 1999
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian ChineseO Ainoon, J Joyce, N Y Boo, et al.Human Mutation|September 30, 1999
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T)A De Siervi, M Mendez, V E Parera, et al.Pageof 583