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Human Mutation|November 3, 2000
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genesG Aguiari, S Savelli, M Garbo, et al.Human Mutation|November 3, 2000
Pharmacogenetics of catechol-O-methyltransferase: frequency of low activity allele in a Ghanaian populationM M Ameyaw, A C Syvänen, I Ulmanen, et al.Human Mutation|November 3, 2000
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I familiesN L Tang, J Hui, L K Law, et al.Human Mutation|July 20, 2001
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndromeJ M Hertz, I Juncker, U Persson, et al.Human Mutation|July 20, 2001
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) geneM Filocamo, G Bonuccelli, F Corsolini, et al.Human Mutation|August 29, 2001
RNase cleavage-based methods for mutation/SNP detection, past and presentM M GoldrickHuman Mutation|August 29, 2001
High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosisS Bezieau, M C Devilder, H Avet-Loiseau, et al.Human Mutation|August 29, 2001
Molecular basis of phenylketonuria in CubaL R Desviat, B Pérez, E Gutierrez, et al.Human Mutation|January 4, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathiesM M Sohocki, S P Daiger, S J Bowne, et al.Human Mutation|January 4, 2001
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genesA Jakubowska, B Górski, G Kurzawski, et al.Pageof 582