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Human Mutation|September 5, 2003
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesionsS Funghini, M A Donati, E Pasquini, et al.Human Mutation|November 25, 2003
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotypeW D Kruger, L Wang, K H Jhee, et al.Human Mutation|November 25, 2003
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AZeynep Tümer, Lisbeth Birk Møller, Nina HornHuman Mutation|November 25, 2003
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedemaLajos Kalmár, András Bors, Henriette Farkas, et al.Human Mutation|November 25, 2003
NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer, Sylvain Hanein, Valérie Raclin, et al.Human Mutation|May 18, 2004
Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1Matt J Neville, Elaine C Johnstone, Robert T WaltonHuman Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.Human Mutation|May 18, 2004
An improved electronic microarray-based diagnostic assay for identification of MEFV mutationsStéphane Moutereau, Rémy Narwa, Catherine Matheron, et al.Human Mutation|May 18, 2004
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern HungaryTímea Tóth, Susan Kupka, Birgit Haack, et al.Pageof 583